{"orpha":597749,"name":"KAT6B-related multiple congenital anomalies syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["KAT6B-related disorder"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-597749/","orphanet_url":"https://www.orpha.net/en/disease/detail/597749","names":{"fr":{"name":"Syndrome d'anomalies congénitales multiples associé à KAT6B","synonyms":["Maladie associée à KAT6B"]},"de":{"name":"KAT6B-abhängiges multiple kongenitale Anomalien-Syndrom","synonyms":["KAT6B-Gen-assoziierte Störungen"]},"es":{"name":"Síndrome de anomalías congénitas múltiples asociado a KAT6B","synonyms":["Trastornos asociados a KAT6B"]},"it":{"name":"Sindrome da anomalie congenite multiple correlata a KAT6B","synonyms":["Malattie correlate a KAT6B"]},"nl":{"name":"KAT6B-gerelateerd syndroom van multipele congenitale anomalieën","synonyms":["KAT6B-gerelateerde aandoeningen"]},"pt":{"name":"Síndrome de anomalias congénitas múltiplas KAT6B-relacionada","synonyms":["Doenças KAT6B-relacionadas"]},"pl":{"name":"Zespół mnogich wad zwiazany z KAT6B","synonyms":["Zaburzenia związane z KAT6B"]},"cs":{"name":"Syndrom mnohočetných vrozených vad souvisejících s KAT6B","synonyms":["KAT6B-related disorder"]},"uk":{"name":"Синдром множинних вроджених аномалій, повязаних з KAT6B","synonyms":["Захворювання, повязане з KAT6B"]},"zh":{"name":"KAT6B-related multiple congenital anomalies syndrome","synonyms":["KAT6B-related disorder"]},"tr":{"name":"KAT6B-related multiple congenital anomalies syndrome","synonyms":["KAT6B-related disorder"]}},"xrefs":[{"source":"UMLS","code":"C5680266","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":93455,"name":"Patellar dysostosis","classifications":[147,156,199]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[{"orpha":3047,"name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","type":"Malformation syndrome"},{"orpha":597746,"name":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome","type":"Malformation syndrome"},{"orpha":85201,"name":"Genitopatellar syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}