{"Name":"Cleft palate with or without ankyloglossia, X-linked","DiseaseID__c":"GARD:0001394","id":1394,"encodedName":"cleft-palate-with-or-without-ankyloglossia-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Cleft palate with or without ankyloglossia, X-linked","Xref_IDs__c":"766761000; C1844830; C536426; DOID:0060613; MEDGEN:375520; MONDO:0010560; OMIM:303400; ORPHA:324601","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010560","Disease_Description__c":"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.","GARD_Name__c":"Cleft palate with or without ankyloglossia, X-linked","GARD_Synonym__c":"cleft palate with ankyloglossia; x-linked cleft palate and ankyloglossia","Curated_Disease_Description_Source__c":"MONDO:0010560","Curated_Disease_Description__c":"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.","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:324601","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010560","ORPHANET_ID__c":"ORPHA:324601","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paladar hendido y anquiloglosia ligados al cromosoma x","Spanish_Description_Source__c":"ORPHA:324601","Spanish_Description__c":"Es un defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por la asociación de paladar hendido completo, parcial o submucoso, y anquiloglosia. Los afectados también pueden presentar una úvula anómala (p. ej., ausente, bífida, acortada o desviada lateralmente), frenillo lingual corto y anomalías dentales (p. ej., mordida bucal cruzada, dientes ausentes y/o malformados). También se han descrito anomalías de los dedos, tales como leve clinodactilia y/o sindactilia.","Spanish_Disease_Name__c":"paladar hendido y anquiloglosia ligados al cromosoma x","Spanish_GARD_Synonym__c":null,"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":"X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0010560","GARD_Synonym__c":"cleft palate with ankyloglossia; x-linked cleft palate and ankyloglossia","Name":"Cleft palate with or without ankyloglossia, X-linked","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":"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:324601"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324601"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001394","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060613","Source__c":"MONDO:0010560","Xref__c":"DOID:0060613"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375520","Source__c":"C1844830","Xref__c":"MEDGEN:375520"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766761000","Source__c":"MONDO:0010560","Xref__c":"766761000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844830","Source__c":"C1844830","Xref__c":"C1844830"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536426","Source__c":"MONDO:0010560","Xref__c":"C536426"},{"URL__c":"https://www.orpha.net/en/disease/detail/324601","Source__c":"C1844830; MONDO:0010560","Xref__c":"ORPHA:324601"},{"URL__c":"https://www.omim.org/entry/303400","Source__c":"C1844830; MONDO:0010560","Xref__c":"OMIM:303400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010560","Source__c":"GARD:0001394","Xref__c":"MONDO:0010560"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:303400","Feature__r":{"HPO_Description__c":"Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010296","HPO_Synonym__c":"Tongue tied","HPO_Name__c":"Ankyloglossia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:303400","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":"OMIM:303400","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft palate with ankyloglossia"," x-linked cleft palate and ankyloglossia"]}