{"Name":"Tibio-fibular synostosis","DiseaseID__c":"GARD:0021208","id":21208,"encodedName":"tibio-fibular-synostosis","IsDeleted":false,"Disease_Name_Full__c":"Tibio-fibular synostosis","Xref_IDs__c":"737581000; C4545230; MEDGEN:1616659; MONDO:0017467; ORPHA:295028","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017467","Disease_Description__c":"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.","GARD_Name__c":"Tibio-fibular synostosis","GARD_Synonym__c":"congenital tibio-fibular fusion; tibio-fibular fusion","Curated_Disease_Description_Source__c":"MONDO:0017467","Curated_Disease_Description__c":"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295028","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017467","ORPHANET_ID__c":"ORPHA:295028","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinostosis tibioperonea aislada","Spanish_Description_Source__c":"ORPHA:295028","Spanish_Description__c":"La sinostosis tibioperonea es una malformación no sindrómica de las extremidades, poco frecuente, caracterizada por la fusión de la metáfisis y/o diáfisis de la tibia y del peroné proximal o distal, por lo general asociada con el posicionamiento distal de la articulación tibioperonea proximal, discrepancia en la longitud de las piernas, arqueamiento del peroné, y deformidad del valgo de la rodilla.","Spanish_Disease_Name__c":"sinostosis tibioperonea aislada","Spanish_GARD_Synonym__c":"fusión congénita aislada de tibia-peroné","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":"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.","Curated_Disease_Description_Source__c":"MONDO:0017467","GARD_Synonym__c":"congenital tibio-fibular fusion; tibio-fibular fusion","Name":"Tibio-fibular synostosis","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/C4545230","Source__c":"C4545230","Xref__c":"C4545230"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=737581000","Source__c":"C4545230; MONDO:0017467","Xref__c":"737581000"},{"URL__c":"https://www.orpha.net/en/disease/detail/295028","Source__c":"C4545230; MONDO:0017467","Xref__c":"ORPHA:295028"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1616659","Source__c":"C4545230","Xref__c":"MEDGEN:1616659"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017467","Source__c":"GARD:0021208","Xref__c":"MONDO:0017467"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital tibio-fibular fusion"," tibio-fibular fusion"]}