{"orpha":168972,"name":"Kahrizi syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Intellectual disability, Kahrizi type","Intellectual disability-cataract-coloboma-kyphosis syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG","url":"https://raremap.alftech.space/d/ORPHA-168972/","orphanet_url":"https://www.orpha.net/en/disease/detail/168972","names":{"fr":{"name":"Syndrome de Kahrizi","synonyms":["Déficience intellectuelle type Kahrizi","Syndrome de déficience intellectuelle-cataracte-colobome -cyphose"]},"de":{"name":"Kahrizi-Syndrom","synonyms":["Intelligenzminderung Typ Kahrizi","Intelligenzminderung-Katarakt-Kolobom-Kyphose-Syndrom"]},"es":{"name":"Síndrome de Kahrizi","synonyms":["Discapacidad intelectual tipo Kahrizi","Síndrome de discapacidad intelectual-catarata-coloboma-cifosis"]},"it":{"name":"Sindrome di Kahrizi","synonyms":["Deficit cognitivo, tipo Kahrizi"]},"nl":{"name":"Syndroom van Kahrizi","synonyms":["Intellectuele achterstand - cataract - coloboom - kyfose-syndroom","Intellectuele achterstand, Kahrizi-type"]},"pt":{"name":"Síndrome Kahrizi","synonyms":["Perturbação do desenvolvimento intelectual, tipo Kahrizi","Síndrome de perturbação do desenvolvimento intelectual-catarata-coloboma-cifose"]},"pl":{"name":"Zespół Kahrizi","synonyms":["Niepełnosprawność intelektualna - zaćma - szczelina oka- kifoza","Niepełnosprawność intelektualna, typ Kahrizi"]},"cs":{"name":"Kahriziové syndrom","synonyms":["Mentální retardace, Kahriziové typ","Syndrom zahrnující mentální retardaci, kataraktu, kolobom a kyfózu"]},"uk":{"name":"Синдром Кахрізі","synonyms":["Інтелектуальна недостатність, тип Кахрізі","Синдром інтелектуальної недостатності - катаракти-колобоми-кіфозу"]},"zh":{"name":"Kahrizi 综合征","synonyms":["智力障碍-白内障-眼缺损-脊柱后凸综合征"]},"tr":{"name":"Kahrizi sendromu","synonyms":["Zihinsel yetersizlik, Kahrizi tipi","Zihinsel yetersizlik-katarakt-kolobom-kifoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"612713","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675185","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":324737,"name":"SRD5A3-CDG"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}