{"orpha":79482,"name":"Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Akesson syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata","url":"https://raremap.alftech.space/d/ORPHA-79482/","orphanet_url":"https://www.orpha.net/en/disease/detail/79482","names":{"fr":{"name":"Syndrome de cutis verticis gyrata-aplasie de la thyroïde-déficience intellectuelle","synonyms":["Syndrome d'Akesson"]},"de":{"name":"Cutis verticis gyrata-Schilddrüsenaplasie-Intelligenzminderung-Syndrom","synonyms":["Akesson-Syndrom"]},"es":{"name":"Síndrome de cutis verticis gyrata-aplasia tiroidea-discapacidad intelectual","synonyms":["Síndrome de Akesson"]},"it":{"name":"Sindrome cutis verticis gyrata-aplasia della tiroide-disabilità intellettiva","synonyms":["Sindrome di Akesson"]},"nl":{"name":"Cutis verticis gyrata - schildklieraplasie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Akesson"]},"pt":{"name":"Síndrome de cutis verticis gyrata-aplasia da tiroide-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Akesson"]},"pl":{"name":"Skóra kręta ciemienia - aplazja tarczycy - niepełnosprawność intelektualna","synonyms":["Zespół Akessona"]},"cs":{"name":"Syndrom zahrnující cutis verticis gyrata, tyreoidní aplázii a mentální retardaci","synonyms":["Akessonův syndrom"]},"uk":{"name":"Синдром складчастої пахідермії-аплазії щитовидної залози-інтелектуальної недостатності","synonyms":["Синдром Акессона"]},"zh":{"name":"回状颅皮-甲状腺发育不全-智力残疾综合征","synonyms":["Akesson综合征"]},"tr":{"name":"Cutis verticis gyrata-tiroid aplazisi-zihinsel yetersizlik sendromu","synonyms":["Akesson sendromu"]}},"xrefs":[{"source":"OMIM","code":"304200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":357225,"name":"Primary non-essential cutis verticis gyrata"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}