{"Name":"Congenital elbow dislocation","DiseaseID__c":"GARD:0021210","id":21210,"encodedName":"congenital-elbow-dislocation","IsDeleted":false,"Disease_Name_Full__c":"Congenital elbow dislocation","Xref_IDs__c":"C0265561; MEDGEN:539330; MONDO:0017469; ORPHA:295032","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:295032","Disease_Description__c":"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.","GARD_Name__c":"Congenital elbow dislocation","GARD_Synonym__c":"congenital dislocation of elbow; congenital radial head dislocation; isolated congenital elbow dislocation; isolated congenital radial head dislocation","Curated_Disease_Description_Source__c":"ORPHA:295032","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295032","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017469","ORPHANET_ID__c":"ORPHA:295032","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Luxación congénita aislada de la cabeza radial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"luxación congénita aislada de la cabeza radial","Spanish_GARD_Synonym__c":"luxación congénita aislada del codo","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 congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.","Curated_Disease_Description_Source__c":"ORPHA:295032","GARD_Synonym__c":"congenital dislocation of elbow; congenital radial head dislocation; isolated congenital elbow dislocation; isolated congenital radial head dislocation","Name":"Congenital elbow dislocation","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/295032","Source__c":"C0265561; MONDO:0017469","Xref__c":"ORPHA:295032"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539330","Source__c":"C0265561","Xref__c":"MEDGEN:539330"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265561","Source__c":"C0265561","Xref__c":"C0265561"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371629001","Source__c":"C0265561","Xref__c":"371629001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017469","Source__c":"GARD:0021210","Xref__c":"MONDO:0017469"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital dislocation of elbow"," congenital radial head dislocation"," isolated congenital elbow dislocation"," isolated congenital radial head dislocation"]}