{"orpha":231679,"name":"Isolated growth hormone deficiency type II","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital IGHD type II","Congenital isolated GH deficiency type II","Congenital isolated growth hormone deficiency type II"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-231679/","orphanet_url":"https://www.orpha.net/en/disease/detail/231679","names":{"fr":{"name":"Insuffisance somatotrope isolée type II","synonyms":["Déficit congénital isolé en STH type II","Déficit congénital isolé en hormone de croissance type II"]},"de":{"name":"Wachstumshormonmangel, isolierter, Typ II","synonyms":["GH-Mangel, isolierter kongenitaler, Typ II","IGHD, kongenitaler, Typ II","Wachstumshormonmangel, isolierter kongenitaler, Typ II"]},"es":{"name":"Deficiencia aislada de hormona de crecimiento tipo II","synonyms":["Deficiencia congénita aislada de GH tipo II","Deficiencia congénita aislada de hormona de crecimiento tipo II","IGHD congénito tipo II"]},"it":{"name":"Deficit isolato dell'ormone della crescita, tipo 2","synonyms":["Deficit isolato congenito dell'ormone della crescita, tipo 2","Deficit isolato congenito di GH, tipo 2","IGHD congenito, tipo 2"]},"nl":{"name":"Geïsoleerde groeihormoondeficiëntie type II","synonyms":["Congenitale IGHD type II","Congenitale geïsoleerde GH-deficiëntie type II","Congenitale geïsoleerde groeihormoondeficiëntie type II"]},"pt":{"name":"Deficiência de hormona de crescimento tipo II isolada"},"pl":{"name":"Izolowany Niedobór hormonu wzrostu typu II","synonyms":["Wrodzony IGHD typu II","Wrodzony izolowany Niedobór GH typu II","Wrodzony izolowany Niedobór hormonu wzrostu typu II"]},"cs":{"name":"Izolovaný deficit růstového hormonu, typ II","synonyms":["Vrozený IGHD, typ II","Vrozený izolovaný GH deficit, typ II","Vrozený izolovaný deficit růstového hormonu, typ II"]},"uk":{"name":"Ізольований дефіцит гормону росту, тип II","synonyms":["Вроджений IGHD типу II","Вроджений ізольований дефіцит гормону росту II типу","Вроджений ізольований дефіцит гормону росту II типу"]},"zh":{"name":"孤立性生长激素缺乏症II型","synonyms":["先天性孤立性生长激素缺乏症II型"]},"tr":{"name":"İzole büyüme hormonu eksikliği tip II","synonyms":["Doğumsal IGHD tip II","Doğumsal izole GH eksikliği tip II","Doğumsal izole büyüme hormonu eksikliği tip II"]}},"xrefs":[{"source":"OMIM","code":"173100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613038","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008250","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562704","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1696","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":631,"name":"Non-acquired isolated growth hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"POU1F1","name":"POU class 1 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26612202[PMID]","hgnc":"9210","ensembl":"ENSG00000064835","omim":"173110","loci":["3p11.2"]},{"symbol":"GH1","name":"growth hormone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19762173[PMID]_22139958[PMID]","hgnc":"4261","ensembl":"ENSG00000259384","omim":"139250","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}