{"orpha":684247,"name":"Isolated growth hormone deficiency type IV","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684247/","orphanet_url":"https://www.orpha.net/en/disease/detail/684247","names":{"fr":{"name":"Insuffisance somatotrope isolée type IV"},"de":{"name":"Isolierter Wachstumshormonmangel Typ IV"},"es":{"name":"Deficiencia aislada de la hormona del crecimiento tipo IV"},"it":{"name":"Deficit isolato dell’ormone della crescita tipo IV"},"nl":{"name":"Geïsoleerde groeihormoondeficiëntie type IV"},"pt":{"name":"Deficiência isolada da hormona do crescimento tipo IV"},"pl":{"name":"Isolated growth hormone deficiency type IV"},"cs":{"name":"Izolovaný nedostatek růstového hormonu, typ IV"}},"xrefs":[{"source":"OMIM","code":"618157","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","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":"GHRHR","name":"growth hormone releasing hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36960394[PMID]","hgnc":"4266","ensembl":"ENSG00000106128","omim":"139191","loci":["7p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}