{"orpha":99771,"name":"Bifid uvula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Bifidity of the uvula","Uvular cleft"],"definition":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99771/","orphanet_url":"https://www.orpha.net/en/disease/detail/99771","names":{"fr":{"name":"Luette bifide","synonyms":["Bifidité de la luette","Fente de la luette"],"definition":"La bifidité de la luette est une embryopathie précoce de type fissuraire atteignant la luette appendue en arrière du voile du palais."},"de":{"name":"Uvula bifida","synonyms":["Gaumenzäpfchen, zweigeteiltes","Uvulaspalte"],"definition":"Die Uvula bifida ist eine Spalten-Embryopathie und betrifft die Uvula am hinteren Ende des weichen Gaumens."},"es":{"name":"Úvula bífida","synonyms":["Hendidura uvular"],"definition":"La úvula bífida es una embriopatía de tipo fisura que afecta a la úvula que cuelga en la parte posterior del velo del paladar."},"it":{"name":"Ugola bifida","synonyms":["Bifidità dell'ugola","Schisi uvulare"],"definition":"L'ugola bifida è un'embriopatia che consiste in una fissurazione dell'estremità posteriore del palato molle."},"nl":{"name":"Bifide uvula","synonyms":["Fissuur van de huig","Gespleten huig"],"definition":"Gespleten huig is een fissuren-embryopathie die de huig aan de achterkant van het zachte gehemelte treft."},"pt":{"name":"Úvula bífida","definition":"A úvula bífida é uma embriopatia do tipo fissura afetando a úvula na parte de trás do palato mole."},"pl":{"name":"Rozdwojenie języczka","synonyms":["Języczek dwudzielny","Rozszczep języczka"]},"cs":{"name":"Rozštěp uvuly","synonyms":["Bifidity of the uvula","Uvular cleft"]},"uk":{"name":"Роздвоєний язичок","synonyms":["Двоякість язичка","Увулярна розщілина"],"definition":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate."},"zh":{"name":"悬雍垂裂","synonyms":["悬雍垂二裂"],"definition":"悬雍垂双裂是一种裂隙型胚胎病，影响软腭后部的悬雍垂。"},"tr":{"name":"Bifid uvula","synonyms":["Uvüler yarık","Bifid uvula"]}},"xrefs":[{"source":"ICD-10","code":"Q35.7","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA42.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"684398038"},{"source":"MONDO","code":"0008637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551488","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2014,"name":"Cleft palate","classifications":[147,209]}],"children":[],"genes":[{"symbol":"UBB","name":"ubiquitin B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17468296[PMID]","hgnc":"12463","ensembl":"ENSG00000170315","omim":"191339","loci":["17p11.2"]},{"symbol":"GRHL3","name":"grainyhead like transcription factor 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27018472[PMID]_27018475[PMID]","hgnc":"25839","ensembl":"ENSG00000158055","omim":"608317","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-06","source":"24360809[PMID]_18614778[PMID]_3975126[PMID]_1121242[PMID]","terms":[{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008376","label":"Nasal, dysarthic speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Occasional (29-5%)","criteria":null}]}}