{"Name":"Glossopalatine ankylosis","DiseaseID__c":"GARD:0019954","id":19954,"encodedName":"glossopalatine-ankylosis","IsDeleted":false,"Disease_Name_Full__c":"Glossopalatine ankylosis","Xref_IDs__c":"717814004; C4303569; MEDGEN:929238; MONDO:0015399; ORPHA:141163","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015399","Disease_Description__c":"A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly).","GARD_Name__c":"Glossopalatine ankylosis","GARD_Synonym__c":"cosack syndrome","Curated_Disease_Description_Source__c":"ORPHA:141163","Curated_Disease_Description__c":"Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:141163","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015399","ORPHANET_ID__c":"ORPHA:141163","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anquilosis glosopalatina","Spanish_Description_Source__c":"ORPHA:141163","Spanish_Description__c":"Es un síndrome de hipogenesia oromandibular y de extremidades (OLHS, por sus siglas en inglés) poco frecuente, caracterizado por la presencia de una banda intraoral de grosor variable que une la lengua al paladar duro o al reborde alveolar maxilar. Puede estar asociado con otras anomalías como paladar hendido (en cuyo caso la lengua puede estar adherida al tabique nasal), hipoplasia mandibular, hipoplasia del labio superior, hipodoncia y anomalías variables de las extremidades (como oligodactilia, sindactilia y polidactilia).","Spanish_Disease_Name__c":"anquilosis glosopalatina","Spanish_GARD_Synonym__c":"síndrome de cosack","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":"Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.","Curated_Disease_Description_Source__c":"ORPHA:141163","GARD_Synonym__c":"cosack syndrome","Name":"Glossopalatine ankylosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:141163"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141163"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929238","Source__c":"C4303569","Xref__c":"MEDGEN:929238"},{"URL__c":"https://www.orpha.net/en/disease/detail/141163","Source__c":"C4303569; MONDO:0015399; ORPHA:141163","Xref__c":"ORPHA:141163"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717814004","Source__c":"C4303569; MONDO:0015399","Xref__c":"717814004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303569","Source__c":"C4303569","Xref__c":"C4303569"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015399","Source__c":"GARD:0019954","Xref__c":"MONDO:0015399"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"]},"synonyms":["cosack syndrome"]}