{"orpha":664404,"name":"6q25.1 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664404/","orphanet_url":"https://www.orpha.net/en/disease/detail/664404","names":{"fr":{"name":"Syndrome de microdélétion 6q25.1"},"de":{"name":"Mikrodeletionssyndrom 6q25.1"},"es":{"name":"Síndrome de microdeleción 6q25.1"},"it":{"name":"Sindrome da microdelezione 6q25.1"},"nl":{"name":"6q25.1-microdeletiesyndroom"},"pt":{"name":"Síndrome de microdeleção 6q25.1"},"pl":{"name":"Zespół mikrodelecji 6q25.1"},"cs":{"name":"Syndrom mikrodelece 6q25.1"},"uk":{"name":"Синдром мікроделеції 6q25.1"}},"xrefs":[{"source":"OMIM","code":"614980","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0971095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":228410,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","classifications":[147,148,156,181]},{"orpha":262047,"name":"Partial deletion of the long arm of chromosome 6 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"TAB2","name":"TGF-beta activated kinase 1 (MAP3K7) binding protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20493459[PMID]","hgnc":"17075","ensembl":"ENSG00000055208","omim":"605101","loci":["6q25.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}