{"orpha":284811,"name":"Syndromic oculocutaneous albinism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-284811/","orphanet_url":"https://www.orpha.net/en/disease/detail/284811","names":{"fr":{"name":"Albinisme oculocutané syndromique"},"de":{"name":"Okulokutaner Albinismus, syndromaler"},"es":{"name":"Albinismo oculocutáneo sindrómico"},"it":{"name":"Albinismo oculocutaneo sindromico"},"nl":{"name":"Syndromaal oculocutaan albinisme"},"pt":{"name":"Albinismo oculocutâneo sindromático"},"pl":{"name":"Syndromiczny albinizm oczno-skórny"},"cs":{"name":"Syndromický okulokutánní albinismus"},"uk":{"name":"Синдромний окулокутанний альбінізм"},"zh":{"name":"综合征性眼皮肤白化病"},"tr":{"name":"Sendromik okülokütanöz albinizm"}},"xrefs":[{"source":"MONDO","code":"0017305","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681016","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":98706,"name":"Oculocutaneous or ocular albinism","classifications":[156,189]}],"children":[{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease"},{"orpha":603494,"name":"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","type":"Malformation syndrome"},{"orpha":381,"name":"Griscelli syndrome","type":"Disease"},{"orpha":79430,"name":"Hermansky-Pudlak syndrome","type":"Disease"},{"orpha":2719,"name":"Oculocerebral hypopigmentation syndrome, Cross type","type":"Malformation syndrome"},{"orpha":2720,"name":"Oculocerebral hypopigmentation syndrome, Preus type","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}