{"Name":"Isolated cleft palate","DiseaseID__c":"GARD:0001896","id":1896,"encodedName":"isolated-cleft-palate","IsDeleted":false,"Disease_Name_Full__c":"Isolated cleft palate","Xref_IDs__c":"C1837218; DOID:0110213; MEDGEN:332392; MONDO:0007336; OMIM:119540","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007336","Disease_Description__c":"A cleft palate that is not part of a larger syndrome.","GARD_Name__c":"Isolated cleft palate","GARD_Synonym__c":"nonsyndromic cleft palate","Curated_Disease_Description_Source__c":"MEDGEN:C0008925","Curated_Disease_Description__c":"A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007336","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development.","Curated_Disease_Description_Source__c":"MEDGEN:C0008925","GARD_Synonym__c":"nonsyndromic cleft palate","Name":"Isolated cleft palate","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110213","Source__c":"MONDO:0007336","Xref__c":"DOID:0110213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332392","Source__c":"C1837218","Xref__c":"MEDGEN:332392"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837218","Source__c":"C1837218","Xref__c":"C1837218"},{"URL__c":"https://www.omim.org/entry/119540","Source__c":"C1837218; MONDO:0007336","Xref__c":"OMIM:119540"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007336","Source__c":"GARD:0001896","Xref__c":"MONDO:0007336"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009102","HPO_Synonym__c":"Absence of overlap of anterior upper and lower teeth; Anterior open bite; Anterior open bite between upper and lower teeth; Anterior openbite; AOB; Apertognathia malocclusion; Gap between upper and lower front teeth when biting","HPO_Name__c":"Anterior open-bite malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011094","HPO_Synonym__c":"Increased overlap of upper and lower incisors; Overbite; Supraocclusion","HPO_Name__c":"Increased overbite","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:119540","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["nonsyndromic cleft palate"]}