{"orpha":269505,"name":"Congenital communicating hydrocephalus","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital non-obstructive hydrocephalus"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-269505/","orphanet_url":"https://www.orpha.net/en/disease/detail/269505","names":{"fr":{"name":"Hydrocéphalie congénitale communicante","synonyms":["Hydrocéphalie congénitale non obstructive"]},"de":{"name":"Hydrozephalus, kommunizierender, kongenitaler","synonyms":["Hydrozephalus, nichtobstruktiver, kongenitaler"]},"es":{"name":"Hidrocefalia comunicante congénita","synonyms":["Hidrocefalia no obstructiva congénita"]},"it":{"name":"Idrocefalo comunicante congenito","synonyms":["Idrocefalo non ostruttivo congenito"]},"nl":{"name":"Congenitale communicerende hydrocefalus","synonyms":["Congenitale niet-obstructieve hydrocefalus"]},"pt":{"name":"Hidrocefalia comunicante congénita","synonyms":["Hidrocefalia não-obstrutiva congénita"]},"pl":{"name":"Wrodzone wodogłowie komunikujące","synonyms":["Wrodzone wodogłowie nieobstrukcyjne"]},"cs":{"name":"Vrozený komunikující hydrocefalus","synonyms":["Vrozený neobstrukční hydrocefalus"]},"uk":{"name":"Вроджена комунікуюча гідроцефалія","synonyms":["Вроджена необструктивна гідроцефалія"]},"zh":{"name":"先天性交通性脑积水","synonyms":["先天性非梗阻性脑积水"]},"tr":{"name":"Doğumsal komunikan hidrosefali","synonyms":["Doğumsal obstrüktif olmayan hidrosefali"]}},"xrefs":[{"source":"OMIM","code":"615219","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q03.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2185,"name":"Congenital hydrocephalus","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MPDZ","name":"multiple PDZ domain crumbs cell polarity complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23240096[PMID]","hgnc":"7208","ensembl":"ENSG00000107186","omim":"603785","loci":["9p23"]},{"symbol":"TRIM71","name":"tripartite motif containing 71","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29983323[PMID]","hgnc":"32669","ensembl":"ENSG00000206557","omim":"618570","loci":["3p22.3"]},{"symbol":"WDR81","name":"WD repeat domain 81","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28556411[PMID]","hgnc":"26600","ensembl":"ENSG00000167716","omim":"614218","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}