{"Name":"Velopharyngeal insufficiency","DiseaseID__c":"GARD:0005470","id":5470,"encodedName":"velopharyngeal-insufficiency","IsDeleted":false,"Disease_Name_Full__c":"Velopharyngeal insufficiency","Xref_IDs__c":"C0042454; D014681; HP:0000220; MEDGEN:52992; MONDO:0008180; OMIM:167500; ORPHA:2291","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008180","Disease_Description__c":"Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.","GARD_Name__c":"Velopharyngeal insufficiency","GARD_Synonym__c":"congenital velopharyngeal incompetence; velopharyngeal dysfunction; velopharyngeal incompetence; vpi - velopharyngeal incompetence","Curated_Disease_Description_Source__c":"MONDO:0008180","Curated_Disease_Description__c":"Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2291","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008180","ORPHANET_ID__c":"ORPHA:2291","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Incompetencia velofaríngea congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"incompetencia velofaríngea congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98036","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":"Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.","Curated_Disease_Description_Source__c":"MONDO:0008180","GARD_Synonym__c":"congenital velopharyngeal incompetence; velopharyngeal dysfunction; velopharyngeal incompetence; vpi - velopharyngeal incompetence","Name":"Velopharyngeal insufficiency","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2291"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52992","Source__c":"C0042454","Xref__c":"MEDGEN:52992"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0042454","Source__c":"C0042454","Xref__c":"C0042454"},{"URL__c":"https://www.orpha.net/en/disease/detail/2291","Source__c":"C0042454; MONDO:0008180","Xref__c":"ORPHA:2291"},{"URL__c":"https://www.omim.org/entry/167500","Source__c":"C0042454; MONDO:0008180; ORPHA:2291","Xref__c":"OMIM:167500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014681","Source__c":"C0042454; MONDO:0008180","Xref__c":"D014681"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232416001","Source__c":"C0042454","Xref__c":"232416001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000220","Source__c":"C0042454","Xref__c":"HP:0000220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008180","Source__c":"GARD:0005470","Xref__c":"MONDO:0008180"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000220","HPO_Synonym__c":"Velopharyngeal incompetence","HPO_Name__c":"Velopharyngeal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["congenital velopharyngeal incompetence"," velopharyngeal dysfunction"," velopharyngeal incompetence"," vpi - velopharyngeal incompetence"]}