{"Name":"Congenital bowing of long bones","DiseaseID__c":"GARD:0000953","id":953,"encodedName":"congenital-bowing-of-long-bones","IsDeleted":false,"Disease_Name_Full__c":"Congenital bowing of long bones","Xref_IDs__c":"716098006; C1859394; MEDGEN:395251; MONDO:0008882; OMIM:211355","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008882","Disease_Description__c":"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.","GARD_Name__c":"Congenital bowing of long bones","GARD_Synonym__c":"bowing of long bones, asymmetric and symmetric","Curated_Disease_Description_Source__c":"MONDO:0008882","Curated_Disease_Description__c":"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2292","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008882","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.","Curated_Disease_Description_Source__c":"MONDO:0008882","GARD_Synonym__c":"bowing of long bones, asymmetric and symmetric","Name":"Congenital bowing of long bones","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859394","Source__c":"C1859394","Xref__c":"C1859394"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395251","Source__c":"C1859394","Xref__c":"MEDGEN:395251"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716098006","Source__c":"MONDO:0008882","Xref__c":"716098006"},{"URL__c":"https://www.omim.org/entry/211355","Source__c":"C1859394; MONDO:0008882","Xref__c":"OMIM:211355"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008882","Source__c":"GARD:0000953","Xref__c":"MONDO:0008882"}],"tags":{},"synonyms":["bowing of long bones, asymmetric and symmetric"]}