{"orpha":77295,"name":"Odontoleukodystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dentoleukoencephalopathy","Leukodystrophy with oligodontia"],"definition":null,"note":"This disease is described under 4H leukodystrophy","url":"https://raremap.alftech.space/d/ORPHA-77295/","orphanet_url":"https://www.orpha.net/en/disease/detail/77295","names":{"fr":{"name":"Odontoleucodystrophie","synonyms":["Dento-leuco-encéphalopathie","Syndrome de leucodystrophie-oligodontie"]},"de":{"name":"Odontoleukodystrophie","synonyms":["Dento-Leukoenzephalopathie","Dentoleukoenzephalopathie","Leukodystrophie mit Oligodontie"]},"es":{"name":"Odontoleucodistrofia","synonyms":["Leucodistrofia con oligodontia"]},"it":{"name":"Odontoleucodistrofia","synonyms":["Dentoleucoencefalopatia","Leucodistrofia con oligodontia"]},"nl":{"name":"Odontoleukodystrofie","synonyms":["Dentoleuko-encefalopathie","Leukodystrofie met oligodontie"]},"pt":{"name":"Leucodistrofia com oligodontia","synonyms":["Dento-leucoencefalopatia"]},"pl":{"name":"Leukodystrofia z oligodoncją","synonyms":["Dentoleukoencefalopatia","Leukodystrofia z oligodoncją"]},"cs":{"name":"Odontoleukodystrofie","synonyms":["Dentoleukoencefalopatie","Leukodystrofie s oligodoncií"]},"uk":{"name":"Одонтолейкодистрофія","synonyms":["Дентолейкоенцефалопатія","Лейкодистрофія з олігодонтією"]},"zh":{"name":"牙脑白质营养不良症","synonyms":["脑白质营养不良症伴少牙畸形"]},"tr":{"name":"Odontolökodistrofi","synonyms":["Dentolökoensefalopati","Oligodonti ile seyreden lökodistrofi"]}},"xrefs":[{"source":"OMIM","code":"607694","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3502054","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289494,"name":"4H leukodystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLR3A","name":"RNA polymerase III subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21855841[PMID]_22855961[PMID]","hgnc":"30074","ensembl":"ENSG00000148606","omim":"614258","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12605447[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"12605447[PMID]"}],"phenotypes":null}