{"Name":"Bifid uvula","DiseaseID__c":"GARD:0019687","id":19687,"encodedName":"bifid-uvula","IsDeleted":false,"Disease_Name_Full__c":"Bifid uvula","Xref_IDs__c":"18910001; C4551488; HP:0000193; MEDGEN:1646931; MONDO:0008637; OMIM:192100; ORPHA:99771","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008637","Disease_Description__c":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.","GARD_Name__c":"Bifid uvula","GARD_Synonym__c":"bifid palatine uvula; bifidity of the uvula; cleft of uvula; cleft uvula; forked uvula; split uvula; uvula bifida; uvular cleft","Curated_Disease_Description_Source__c":"MONDO:0008637","Curated_Disease_Description__c":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:99771","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008637","ORPHANET_ID__c":"ORPHA:99771","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Úvula bífida","Spanish_Description_Source__c":"ORPHA:99771","Spanish_Description__c":"La úvula bífida es una embriopatía de tipo fisura que afecta a la úvula que cuelga en la parte posterior del velo del paladar.","Spanish_Disease_Name__c":"úvula bífida","Spanish_GARD_Synonym__c":"hendidura uvular","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.","Curated_Disease_Description_Source__c":"MONDO:0008637","GARD_Synonym__c":"bifid palatine uvula; bifidity of the uvula; cleft of uvula; cleft uvula; forked uvula; split uvula; uvula bifida; uvular cleft","Name":"Bifid uvula","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99771"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99771"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/99771","Source__c":"C4551488; MONDO:0008637; ORPHA:99771","Xref__c":"ORPHA:99771"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551488","Source__c":"C4551488","Xref__c":"C4551488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1646931","Source__c":"C4551488","Xref__c":"MEDGEN:1646931"},{"URL__c":"https://www.omim.org/entry/192100","Source__c":"C4551488; MONDO:0008637","Xref__c":"OMIM:192100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18910001","Source__c":"MONDO:0008637","Xref__c":"18910001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000193","Source__c":"C4551488","Xref__c":"HP:0000193"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008637","Source__c":"GARD:0019687","Xref__c":"MONDO:0008637"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99771","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99771","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99771","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008376","HPO_Synonym__c":"Breathy speech","HPO_Name__c":"Nasal dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99771","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011819","HPO_Synonym__c":"Partial thickness cleft soft palate; Submucous cleft velum","HPO_Name__c":"Submucous cleft soft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bifid palatine uvula"," bifidity of the uvula"," cleft of uvula"," cleft uvula"," forked uvula"," split uvula"," uvula bifida"," uvular cleft"]}