{"orpha":1408,"name":"Hair defect-photosensitivity-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Calderón-González-Cantu syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy","url":"https://raremap.alftech.space/d/ORPHA-1408/","orphanet_url":"https://www.orpha.net/en/disease/detail/1408","names":{"fr":{"name":"Syndrome d'anomalie des cheveux-photosensibilité-déficience intellectuelle","synonyms":["Syndrome de Calderón-González-Cantu"]},"de":{"name":"Haaranomalien-Photosensibilität-Intelligenzminderung-Syndrom","synonyms":["Calderón-González-Cantu-Syndrom"]},"es":{"name":"Síndrome de anomalías del cabello-fotosensibilidad-discapacidad intelectual","synonyms":["Síndrome de Calderón-González-Cantu"]},"it":{"name":"Sindrome anomalie dei capelli-fotosensibilità-disabilità intellettiva","synonyms":["Sindrome di Calderón-González-Cantu"]},"nl":{"name":"Haardefect - fotosensitiviteit - intellectuele achterstand-syndroom","synonyms":["Syndroom van Calderón-González-Cantu"]},"pt":{"name":"Síndrome de defeitos no cabelo-fotossensibilidade-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Calderón-González-Cantu"]},"pl":{"name":"Anomalia włosów - wrażliwość na światło - niepełnosprawność intelektualna","synonyms":["Zespół Calderona, Gonzaleza i Cantu'a"]},"cs":{"name":"Syndrom zahrnující vlasový defekt, fotosenzitivitu a mentální retardaci","synonyms":["Calderónův-Gonzálezův-Cantuův syndrom","Calderón-González-Cantuův syndrom"]},"uk":{"name":"Синдром дефекту волосся-світлочутливості-інтелектуальної недостатності","synonyms":["Синдром Кальдерона-Гонсалеса-Канту"]},"zh":{"name":"头发缺损-光敏感-智力障碍综合征","synonyms":["Calderón-González-Cantu综合征"]},"tr":{"name":"Saç defekti-fotosensitive-zihinsel yetersizlik sendromu","synonyms":["Calderón-González-Cantu sendromu"]}},"xrefs":[{"source":"OMIM","code":"234030","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856241","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2582","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":33364,"name":"Trichothiodystrophy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}