{"orpha":643538,"name":"Hao-Fountain syndrome due to USP7 mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HAFOUS due to USP7 mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-643538/","orphanet_url":"https://www.orpha.net/en/disease/detail/643538","names":{"fr":{"name":"Syndrome Hao-Fountain due à la mutation USP7"},"de":{"name":"Hao-Fountain-Syndrom durch USP7-Mutation","synonyms":["HAFOUS durch USP7-Genmutation"]},"es":{"name":"Síndrome de Hao-Fountain por mutación en el gen USP7","synonyms":["HAFOUS por mutación en el gen USP7"]},"it":{"name":"Sindrome di Hao-Fountain da mutazione di USP7","synonyms":["HAFOUS da mutazione di USP7"]},"nl":{"name":"Syndroom van Hao-Fountain door USP7-mutatie","synonyms":["HAFOUS door USP7-mutatie"]},"pt":{"name":"Síndrome Hao-Fountain por mutação USP7","synonyms":["HAFOUS por mutação USP7"]},"pl":{"name":"Zespół Hao-Fountaina wskutek mutacji USP7","synonyms":["HAFOUS due to USP7 mutation"]},"cs":{"name":"Haoův-Fountainův syndrom způsobený mutací USP7","synonyms":["HAFOUS due to USP7 mutation"]},"uk":{"name":"Синдром Хао-Фонтейна, зумовлений мутацією USP7","synonyms":["HAFOUS через мутацію USP7"]}},"xrefs":[{"source":"OMIM","code":"616863","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0958071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816734","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":643549,"name":"Hao-Fountain syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"USP7","name":"ubiquitin specific peptidase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30679821[PMID]","hgnc":"12630","ensembl":"ENSG00000187555","omim":"602519","loci":["16p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}