{"orpha":656279,"name":"1p36.33 duplication syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656279/","orphanet_url":"https://www.orpha.net/en/disease/detail/656279","names":{"fr":{"name":"Syndrome de duplication 1p36.33"},"de":{"name":"1p36.33-Duplikationssyndrom"},"es":{"name":"Síndrome de duplicación 1p36.33"},"it":{"name":"Sindrome da duplicazione 1p36.33"},"nl":{"name":"1p36.33-duplicatiesyndroom"},"pt":{"name":"Síndrome de duplicação 1p36.33"},"pl":{"name":"Zespół duplikacji 1p36.33"},"cs":{"name":"Syndrom duplikace 1p36.33"},"uk":{"name":"Синдром дуплікації 1p36.33"}},"xrefs":[{"source":"OMIM","code":"618815","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925104","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":264431,"name":"Partial duplication of the short arm of chromosome 1 syndrome","classifications":[147,156]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ATAD3A","name":"ATPase family AAA domain containing 3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"32004445[PMID]","hgnc":"25567","ensembl":"ENSG00000197785","omim":"612316","loci":["1p36.33"]},{"symbol":"ATAD3B","name":"ATPase family AAA domain containing 3B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"32004445[PMID]","hgnc":"24007","ensembl":"ENSG00000160072","omim":"612317","loci":["1p36.33"]},{"symbol":"ATAD3C","name":"ATPase family AAA domain containing 3C","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"32004445[PMID]","hgnc":"32151","ensembl":"ENSG00000215915","omim":"617227","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}