{"Name":"Congenital shoulder dislocation","DiseaseID__c":"GARD:0021209","id":21209,"encodedName":"congenital-shoulder-dislocation","IsDeleted":false,"Disease_Name_Full__c":"Congenital shoulder dislocation","Xref_IDs__c":"23876003; C0265562; MEDGEN:539331; MONDO:0017468; ORPHA:295030","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:295030","Disease_Description__c":"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.","GARD_Name__c":"Congenital shoulder dislocation","GARD_Synonym__c":"congenital dislocation of glenohumeral joint; congenital dislocation of shoulder; true congenital shoulder dislocation","Curated_Disease_Description_Source__c":"ORPHA:295030","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295030","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017468","ORPHANET_ID__c":"ORPHA:295030","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Luxación congénita verdadera del hombro","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"luxación congénita verdadera del hombro","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 congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.","Curated_Disease_Description_Source__c":"ORPHA:295030","GARD_Synonym__c":"congenital dislocation of glenohumeral joint; congenital dislocation of shoulder; true congenital shoulder dislocation","Name":"Congenital shoulder 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://uts.nlm.nih.gov/uts/umls/concept/C0265562","Source__c":"C0265562","Xref__c":"C0265562"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23876003","Source__c":"C0265562; MONDO:0017468","Xref__c":"23876003"},{"URL__c":"https://www.orpha.net/en/disease/detail/295030","Source__c":"C0265562; MONDO:0017468","Xref__c":"ORPHA:295030"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539331","Source__c":"C0265562","Xref__c":"MEDGEN:539331"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017468","Source__c":"GARD:0021209","Xref__c":"MONDO:0017468"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital dislocation of glenohumeral joint"," congenital dislocation of shoulder"," true congenital shoulder dislocation"]}