{"orpha":231671,"name":"Isolated growth hormone deficiency type IB","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital IGHD type IB","Congenital isolated GH deficiency type IB","Congenital isolated growth hormone deficiency type IB"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-231671/","orphanet_url":"https://www.orpha.net/en/disease/detail/231671","names":{"fr":{"name":"Insuffisance somatotrope isolée type IB","synonyms":["Déficit congénital isolé en STH type IB","Déficit congénital isolé en hormone de croissance type IB"]},"de":{"name":"Wachstumshormonmangel, isolierter, Typ IB","synonyms":["GH-Mangel, isolierter kongenitaler, Typ IB","IGHD, kongenitaler, Typ IB","Wachstumshormonmangel, isolierter kongenitaler, Typ IB"]},"es":{"name":"Deficiencia aislada de hormona de crecimiento tipo IB","synonyms":["Deficiencia congénita aislada de GH tipo IB","Deficiencia congénita aislada de hormona de crecimiento tipo IB","IGHD congénito tipo IB"]},"it":{"name":"Deficit isolato dell'ormone della crescita, tipo 1B","synonyms":["Deficit isolato congenito dell'ormone della crescita, tipo 1B","Deficit isolato congenito di GH, tipo 1B","IGHD congenito, tipo 1B"]},"nl":{"name":"Geïsoleerde groeihormoondeficiëntie type IB","synonyms":["Congenitale IGHD type IB","Congenitale geïsoleerde GH-deficiëntie type IB","Congenitale geïsoleerde groeihormoondeficiëntie type IB"]},"pt":{"name":"Deficiência de hormona de crescimento tipo IB isolada"},"pl":{"name":"Izolowany Niedobór hormonu wzrostu typu IB","synonyms":["Wrodzony IGHD typu IB","Wrodzony izolowany Niedobór GH typu IB","Wrodzony izolowany Niedobór hormonu wzrostu typu IB"]},"cs":{"name":"Izolovaný deficit růstového hormonu, typ IB","synonyms":["Vrozený IGHD, typ 1B","Vrozený izolovaný GH deficit, typ IB","Vrozený izolovaný deficit růstového hormonu, typ IB"]},"uk":{"name":"Ізольований дефіцит гормону росту, тип IB","synonyms":["Вроджений IGHD типу IB","Вроджений ізольований дефіцит гормону росту типу IB","Вроджений ізольований дефіцит гормону росту типу IB"]},"zh":{"name":"孤立性生长激素缺乏症IB型","synonyms":["先天性孤立性生长激素缺乏症IB型"]},"tr":{"name":"İzole büyüme hormonu eksikliği tip IB","synonyms":["Doğumsal IGHD tip IB","Doğumsal izole GH eksikliği tip IB","Doğumsal izole büyüme hormonu eksikliği tip IB"]}},"xrefs":[{"source":"OMIM","code":"612781","qualifier":"E","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":"0013006","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748571","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3919","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":"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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}