{"orpha":231537,"name":"Hermansky-Pudlak syndrome type 8","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["HPS8"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency","url":"https://raremap.alftech.space/d/ORPHA-231537/","orphanet_url":"https://www.orpha.net/en/disease/detail/231537","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak type 8","synonyms":["HPS8","SHP8"]},"de":{"name":"Hermansky-Pudlak-Syndrom Typ 8","synonyms":["HPS8"]},"es":{"name":"Síndrome de Hermansky-Pudlak tipo 8","synonyms":["HPS8"]},"it":{"name":"Sindrome di Hermansky-Pudlak, tipo 8","synonyms":["HPS8"]},"nl":{"name":"Syndroom van Hermansky-Pudlak type 8","synonyms":["HPS8"]},"pt":{"name":"Síndrome de Hermansky-Pudlak tipo 8"},"pl":{"name":"Zespół Hermansky'ego i Pudlaka typu 8","synonyms":["HPS8"]},"cs":{"name":"Heřmanského-Pudlákův syndrom, typ 8","synonyms":["HPS8","Heřmansky-Pudlákův syndrom, typ 8"]},"uk":{"name":"Синдром Германського-Пудлака, тип 8","synonyms":["HPS8"]},"zh":{"name":"赫曼斯基-普德拉克综合征8型","synonyms":["HPS8"]},"tr":{"name":"Hermansky-Pudlak sendromu tip 8","synonyms":["HPS8"]}},"xrefs":[{"source":"OMIM","code":"614077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}