{"orpha":714487,"name":"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714487/","orphanet_url":"https://www.orpha.net/en/disease/detail/714487","names":{"fr":{"name":"Syndrome de diarrhée congénitale-inflammation gastro-intestinale-dysgénésie oculaire"},"de":{"name":"Kongenitale Diarrhoe-chronische gastrointestinale Inflammation-okuläre Dysgenesie-Syndrom"},"es":{"name":"Síndrome de diarrea congénita-inflamación gastrointestinal crónica-disgenesia ocular"},"it":{"name":"Sindrome diarrea congenita-infiammazione gastrointestinale cronica-disgenesia oculare"},"nl":{"name":"Congenitale diarree - chronische gastro-intestinale inflammatie - oculaire dysgenesie-syndroom"},"pt":{"name":"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome"},"pl":{"name":"Zespół z wrodzoną biegunką, przewlekłym zapaleniem przewodu pokarmowego i dysgenezją oczu"},"cs":{"name":"Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome"}},"xrefs":[{"source":"OMIM","code":"618168","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":717865,"name":"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"WNT2B","name":"Wnt family member 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29909964[PMID]_33526876[PMID]","hgnc":"12781","ensembl":"ENSG00000134245","omim":"601968","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"29909964[PMID]_33526876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29909964[PMID]_33526876[PMID]_ORPHANET"}],"phenotypes":null}