{"Name":"Humeroulnar synostosis","DiseaseID__c":"GARD:0019244","id":19244,"encodedName":"humeroulnar-synostosis","IsDeleted":false,"Disease_Name_Full__c":"Humeroulnar synostosis","Xref_IDs__c":"205330003; C0431799; HP:0003939; MEDGEN:451053; MONDO:0019782; ORPHA:94056","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:94056","Disease_Description__c":"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.","GARD_Name__c":"Humeroulnar synostosis","GARD_Synonym__c":"humeral ulnar synostosis; humero-ulnar fusion; humero-ulnar synostosis","Curated_Disease_Description_Source__c":"ORPHA:94056","Curated_Disease_Description__c":"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:94056","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019782","ORPHANET_ID__c":"ORPHA:94056","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinostosis húmero-cubital aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sinostosis húmero-cubital aislada","Spanish_GARD_Synonym__c":"fusión humerocubital congénita aislada","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 joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.","Curated_Disease_Description_Source__c":"ORPHA:94056","GARD_Synonym__c":"humeral ulnar synostosis; humero-ulnar fusion; humero-ulnar synostosis","Name":"Humeroulnar synostosis","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:94056"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/94056","Source__c":"C0431799; MONDO:0019782","Xref__c":"ORPHA:94056"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=451053","Source__c":"C0431799","Xref__c":"MEDGEN:451053"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431799","Source__c":"C0431799","Xref__c":"C0431799"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003939","Source__c":"C0431799","Xref__c":"HP:0003939"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019782","Source__c":"GARD:0019244","Xref__c":"MONDO:0019782"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205330003","Source__c":"C0431799","Xref__c":"205330003"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["humeral ulnar synostosis"," humero-ulnar fusion"," humero-ulnar synostosis"]}