{"Name":"Bipartite talus","DiseaseID__c":"GARD:0021566","id":21566,"encodedName":"bipartite-talus","IsDeleted":false,"Disease_Name_Full__c":"Bipartite talus","Xref_IDs__c":"763128009; C4706298; MEDGEN:1631166; MONDO:0018228; ORPHA:364198","USA_Estimate__c":"1,000","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":"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:0018228","Disease_Description__c":"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.","GARD_Name__c":"Bipartite talus","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018228","Curated_Disease_Description__c":"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:364198","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018228","ORPHANET_ID__c":"ORPHA:364198","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Astrágalo bipartito","Spanish_Description_Source__c":"ORPHA:364198","Spanish_Description__c":"Es un trastorno óseo genético poco frecuente caracterizado por la presencia de dos fragmentos no fusionados de hueso astrágalo, con el fragmento posterior localizado al nivel del proceso posterior del astrágalo. Los afectados pueden presentar dolor en el pie y/o tobillo (inducido por ejercicio o no), esguinces repetitivos de tobillo, laxitud crónica del ligamento del tobillo, restricción del movimiento del tobillo (es decir, flexión plantar, eversión e inversión) y leve hinchazón.","Spanish_Disease_Name__c":"astrágalo bipartito","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":"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.","Curated_Disease_Description_Source__c":"MONDO:0018228","Name":"Bipartite talus","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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:364198"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:364198"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631166","Source__c":"C4706298","Xref__c":"MEDGEN:1631166"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706298","Source__c":"C4706298","Xref__c":"C4706298"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763128009","Source__c":"C4706298; MONDO:0018228","Xref__c":"763128009"},{"URL__c":"https://www.orpha.net/en/disease/detail/364198","Source__c":"C4706298; MONDO:0018228; ORPHA:364198","Xref__c":"ORPHA:364198"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018228","Source__c":"GARD:0021566","Xref__c":"MONDO:0018228"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":[""]}