{"orpha":687695,"name":"10p13-p14 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(10)(p13p14)","Deletion 10p13-p14"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-687695/","orphanet_url":"https://www.orpha.net/en/disease/detail/687695","names":{"fr":{"name":"Syndrome de délétion 10p13-p14","synonyms":["Del(10)(p13p14)","Délétion 10p13-p14"]},"de":{"name":"Mikrodeletionssyndrom 10p13-p14","synonyms":["Del(10)(p13p14)","Deletion 10p13-p14"]},"es":{"name":"Síndrome de deleción 10p13-p14","synonyms":["Del(10)(p13p14)","Deleción 10p13-p14"]},"it":{"name":"10p13-p14 deletion syndrome"},"nl":{"name":"10p13-p14-deletiesyndroom","synonyms":["Del(10)(p13p14)","Deletie 10p13-p14"]},"pt":{"name":"Síndrome de deleção 10p13-p14","synonyms":["Del(10)(p13p14)","Deleção 10p13-p14"]},"pl":{"name":"Zespół mikrodelecji 10p13-p14","synonyms":["Del(10)(p13p14)","Deletion 10p13-p14"]},"cs":{"name":"Syndrom delece 10p13-p14","synonyms":["Del(10)(p13p14)","Deletion 10p13-p14"]}},"xrefs":[{"source":"OMIM","code":"601362","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.A1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"975905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1580,"name":"Distal deletion 10p syndrome","classifications":[147,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}