{"orpha":79478,"name":"Griscelli syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Griscelli-Pruniéras syndrome type 3"],"definition":null,"note":"This disease is described under Griscelli syndrome","url":"https://raremap.alftech.space/d/ORPHA-79478/","orphanet_url":"https://www.orpha.net/en/disease/detail/79478","names":{"fr":{"name":"Syndrome de Griscelli type 3","synonyms":["Syndrome de Griscelli-Pruniéras type 3"]},"de":{"name":"Griscelli-Syndrom Typ 3","synonyms":["Griscelli-Pruniéras-Syndrom Typ 3"]},"es":{"name":"Síndrome de Griscelli tipo 3","synonyms":["Síndrome de Griscelli-Pruniéras tipo 3"]},"it":{"name":"Malattia di Griscelli, tipo 3","synonyms":["Sindrome di Griscelli-Pruniéras, tipo 3"]},"nl":{"name":"Syndroom van Griscelli type 3","synonyms":["Syndroom van Griscelli-Pruniéras type 3"]},"pt":{"name":"Síndrome de Griscelli tipo 3"},"pl":{"name":"Choroba Griscelliego typu 3","synonyms":["Zespół Griscelliego i Pruniérasa typu 3"]},"cs":{"name":"Griscelliho nemoc, typ 3","synonyms":["Griscelliho-Pruniérasův syndrom, typ 3","Griscelli-Pruniérasův syndrom, typ 3"]},"uk":{"name":"Синдром Гріселлі, тип 3","synonyms":["Синдром Гріселлі-Пруньєраса, тип 3"]},"zh":{"name":"格里塞利综合征3型","synonyms":["Griscelli-Pruniéras综合征3型"]},"tr":{"name":"Griscelli sendromu tip 3","synonyms":["Griscelli-Pruniéras sendromu tip 3"]}},"xrefs":[{"source":"OMIM","code":"609227","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1959052636"},{"source":"MONDO","code":"0012220","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836573","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":381,"name":"Griscelli syndrome","classifications":[156,181,187,189]}],"children":[],"genes":[{"symbol":"MLPH","name":"melanophilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29643","ensembl":"ENSG00000115648","omim":"606526","loci":["2q37.3"]},{"symbol":"MYO5A","name":"myosin VA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12897212[PMID]","hgnc":"7602","ensembl":"ENSG00000197535","omim":"160777","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26337734[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"26337734[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26337734[PMID]","terms":[{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007443","label":"Partial albinism","frequency":"Occasional (29-5%)","criteria":null}]}}