{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-557866/","orphanet_url":"https://www.orpha.net/en/disease/detail/557866","names":{"fr":{"name":"Maladie rare avec maladie de Hirschsprung comme manifestation majeure"},"de":{"name":"Seltene Krankheit mit Hirschsprung-Krankheit als Hauptmerkmal"},"es":{"name":"Trastorno raro con enfermedad de Hirschsprung como característica principal"},"it":{"name":"Malattia rara con prevalenti segni clinici della malattia di Hirschsprung"},"nl":{"name":"Zeldzame aandoening met ziekte van Hirschsprung als hoofdkenmerk"},"pt":{"name":"Doença rara com doença de Hirschsprung como característica principal"},"pl":{"name":"Rzadkie zaburzenie z choroby Hirschsprunga jako głównym objawem"},"cs":{"name":"Vzácné onemocnění s Hirschsprungovou chorobou jako hlavním příznakem"},"uk":{"name":"Рідкісний розлад, основною ознакою якого є хвороба Гіршпрунга"},"zh":{"name":"以希尔施普龙病为主要特征的罕见病"},"tr":{"name":"Esas klinik özelliği Hirschsprung hastalığı ile seyreden nadir bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681269","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[{"orpha":110,"name":"Bardet-Biedl syndrome","type":"Disease"},{"orpha":66629,"name":"Goldberg-Shprintzen megacolon syndrome","type":"Malformation syndrome"},{"orpha":99803,"name":"Haddad syndrome","type":"Malformation syndrome"},{"orpha":2155,"name":"Hirschsprung disease-deafness-polydactyly syndrome","type":"Malformation syndrome"},{"orpha":2153,"name":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":2150,"name":"Hirschsprung disease-type D brachydactyly syndrome","type":"Malformation syndrome"},{"orpha":2152,"name":"Mowat-Wilson syndrome","type":"Malformation syndrome"},{"orpha":163746,"name":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","type":"Disease"},{"orpha":897,"name":"Waardenburg-Shah syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}