{"orpha":231692,"name":"Isolated growth hormone deficiency type III","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital IGHD type III","Congenital isolated GH deficiency type III","Congenital isolated growth hormone deficiency type III","X-linked IGHD","X-linked isolated growth hormone deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-231692/","orphanet_url":"https://www.orpha.net/en/disease/detail/231692","names":{"fr":{"name":"Insuffisance somatotrope isolée type III","synonyms":["Déficit congénital isolé en STH type III","Déficit congénital isolé en hormone de croissance lié à l'X","Déficit congénital isolé en hormone de croissance type III","Insuffisance somatotrope isolée liée à l'X"]},"de":{"name":"Wachstumshormonmangel, isolierter, Typ III","synonyms":["GH-Mangel, isolierter kongenitaler, Typ III","IGHD, X-chromosomal","IGHD, kongenitaler, Typ III","Wachstumshormonmangel, isolierter kongenitaler, Typ III","Wachstumshormonmangel, isolierter, X-chromosomaler"]},"es":{"name":"Deficiencia aislada de hormona de crecimiento tipo III","synonyms":["Deficiencia aislada de hormona de crecimiento ligada al cromosoma X","Deficiencia congénita aislada de GH tipo III","Deficiencia congénita aislada de hormona de crecimiento tipo III","IGHD congénito tipo III","IGHD ligado al cromosoma X"]},"it":{"name":"Deficit isolato dell'ormone della crescita, tipo 3","synonyms":["Deficit isolato congenito dell'ormone della crescita, tipo 3","Deficit isolato congenito di GH, tipo 3","Deficit isolato legato all'X dell'ormone della crescita","IGHD congenito, tipo 3","IGHD legato all'X"]},"nl":{"name":"Geïsoleerde groeihormoondeficiëntie type III","synonyms":["Congenitale IGHD type III","Congenitale geïsoleerde GH-deficiëntie type III","Congenitale geïsoleerde groeihormoondeficiëntie type III","X-gebonden IGHD","X-gebonden geïsoleerde groeihormoondeficiëntie"]},"pt":{"name":"Deficiência isolada da hormona de crescimento tipo III"},"pl":{"name":"Izolowany Niedobór hormonu wzrostu typu III","synonyms":["IGHD sprzężony z chromosomem X","Izolowany Niedobór hormonu wzrostu sprzężony z chromosomem X","Wrodzony IGHD typu III","Wrodzony izolowany Niedobór GH typu III","Wrodzony izolowany Niedobór hormonu wzrostu typu III"]},"cs":{"name":"Izolovaný deficit růstového hormonu, typ III","synonyms":["Vrozený IGHD, typ III","Vrozený izolovaný GH deficit, typ III","X-vázaný IGHD","Vrozený izolovaný deficit růstového hormonu, typ III","X-vázaný izolovaný deficit růstového hormonu"]},"uk":{"name":"Ізольований дефіцит гормону росту, тип III","synonyms":["Вроджений IGHD типу III","Вроджений ізольований дефіцит гормону росту III типу","Вроджений ізольований дефіцит гормону росту III типу","Х-звязаний IGHD","Х-зчеплений ізольований дефіцит гормону росту"]},"zh":{"name":"孤立性生长激素缺乏症III型","synonyms":["先天性孤立性生长激素缺乏症III型"]},"tr":{"name":"İzole büyüme hormonu eksikliği tip III","synonyms":["X'e bağlı IGHD","Doğumsal IGHD tip III","Doğumsal izole GH eksikliği tip III","X'e bağlı izole büyüme hormonu eksikliği","Doğumsal izole büyüme hormonu eksikliği tip III"]}},"xrefs":[{"source":"OMIM","code":"300123","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"307200","qualifier":"BTNT","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":"0010615","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3921","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":[{"orpha":632,"name":"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia","type":"Clinical subtype"},{"orpha":67045,"name":"X-linked intellectual disability with isolated growth hormone deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}