{"orpha":104009,"name":"Rare disease involving intestinal motility","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-104009/","orphanet_url":"https://www.orpha.net/en/disease/detail/104009","names":{"fr":{"name":"Maladie rare liée à la motilité intestinale"},"de":{"name":"Intestinale Motilitätsstörungen, kongenitale"},"es":{"name":"Enfermedad rara con afectación de la motilidad intestinal"},"it":{"name":"Disturbo congenito della motilità intestinale"},"nl":{"name":"Congenitale darmmotiliteitstoornis"},"pt":{"name":"Doença da motilidade intestinal rara"},"pl":{"name":"Wrodzone zaburzenia motoryki jelit"},"cs":{"name":"Vzácná postižení střevní motility"},"uk":{"name":"Рідкісне захворювання, повязане з моторикою кишечника"},"zh":{"name":"累及肠运动的罕见疾病"},"tr":{"name":"Bağırsak hareketliliğini içeren nadir hastalık"}},"xrefs":[{"source":"MONDO","code":"15184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681742","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19846","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":110,"name":"Bardet-Biedl syndrome","type":"Disease"},{"orpha":314373,"name":"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity","type":"Disease"},{"orpha":2978,"name":"Chronic intestinal pseudoobstruction syndrome","type":"Clinical syndrome"},{"orpha":2604,"name":"Familial visceral myopathy","type":"Disease"},{"orpha":66629,"name":"Goldberg-Shprintzen megacolon syndrome","type":"Malformation syndrome"},{"orpha":99803,"name":"Haddad syndrome","type":"Malformation syndrome"},{"orpha":388,"name":"Hirschsprung disease","type":"Disease"},{"orpha":2155,"name":"Hirschsprung disease-deafness-polydactyly syndrome","type":"Malformation syndrome"},{"orpha":2151,"name":"Hirschsprung disease-ganglioneuroblastoma 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":314376,"name":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","type":"Disease"},{"orpha":2241,"name":"Megacystis-microcolon-intestinal hypoperistalsis syndrome","type":"Malformation syndrome"},{"orpha":404463,"name":"Multisystemic smooth muscle dysfunction syndrome","type":"Disease"},{"orpha":1876,"name":"Oculogastrointestinal muscular dystrophy","type":"Disease"},{"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}