{"orpha":104077,"name":"Myopathic intestinal pseudoobstruction","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Chronic intestinal pseudoobstruction","url":"https://raremap.alftech.space/d/ORPHA-104077/","orphanet_url":"https://www.orpha.net/en/disease/detail/104077","names":{"fr":{"name":"Pseudo-obstruction intestinale myopathique"},"de":{"name":"Pseudoobstruktion, intestinale myopathische"},"es":{"name":"Pseudoobstrucción intestinal miopática"},"it":{"name":"Pseudo-ostruzione intestinale miopatica"},"nl":{"name":"Myopathische intestinale pseudo-obstructie"},"pt":{"name":"Pseudo-obstrucção intestinal, miopática"},"pl":{"name":"Miopatyczna rzekoma niedrożność jelit"},"cs":{"name":"Myopatická intestinální pseudoobstrukce"},"uk":{"name":"Міопатична псевдообструкція кишечника"},"zh":{"name":"肌病性假性肠梗阻"},"tr":{"name":"Miyopatik bağırsak yalancı tıkanıklığı"}},"xrefs":[{"source":"ICD-10","code":"K59.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1007742014"},{"source":"MONDO","code":"0015191","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19853","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":2978,"name":"Chronic intestinal pseudoobstruction syndrome","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ACTG2","name":"actin gamma 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24591628[PMID]","hgnc":"145","ensembl":"ENSG00000163017","omim":"102545","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}