{"orpha":2895,"name":"Pinsky-Di George-Harley syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Microphthalmia-intellectual disability syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Micro syndrome","url":"https://raremap.alftech.space/d/ORPHA-2895/","orphanet_url":"https://www.orpha.net/en/disease/detail/2895","names":{"fr":{"name":"Syndrome de Pinsky-Di George-Harley","synonyms":["Syndrome de microphtalmie-déficience intellectuelle"]},"de":{"name":"Pinsky-Di George-Harley-Syndrom","synonyms":["Mikrophthalmie mit Intelligenzminderung"]},"es":{"name":"Síndrome de Pinsky-Di George-Harley","synonyms":["Microftalmia-discapacidad intelectual"]},"it":{"name":"Sindrome di Pinsky-Di George-Harley","synonyms":["Microftalmia - ritardo mentale"]},"nl":{"name":"Syndroom van Pinsky-Di George-Harley","synonyms":["Microftalmie - intellectuele achterstand-syndroom"]},"pt":{"name":"Síndrome Pinsky-Di George-Harley","synonyms":["Síndrome de microftalmia-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Pinsky'ego, Di George'a i Harley'a","synonyms":["Małoocze - upośledzenie umysłowe"]},"cs":{"name":"Pinskyův-Di Georgeův-Harleyův syndrom","synonyms":["Syndrom zahrnující mikroftalmii a mentální deficit","Pinsky-Di George-Harleyův syndrom"]},"uk":{"name":"Синдром Пінського-Ді Джорджи-Харлі","synonyms":["Синдром мікрофтальмії та інтелектуальної недостатності"]},"zh":{"name":"Pinsky-Di George-Harley综合征","synonyms":["小眼-智力障碍综合征"]},"tr":{"name":"Pinsky-Di George-Harley sendromu","synonyms":["Mikroftalmi-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"UMLS","code":"C2931500","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2510,"name":"Micro syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}