{"Name":"Short femur","DiseaseID__c":"GARD:0001503","id":1503,"encodedName":"short-femur","IsDeleted":false,"Disease_Name_Full__c":"Short femur","Xref_IDs__c":"93255008; C0345375; HP:0003097; MEDGEN:87499; MONDO:0016032; ORPHA:1987","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016032","Disease_Description__c":"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.","GARD_Name__c":"Short femur","GARD_Synonym__c":"congenital hypoplasia of femur; congenital short femur; femoral agenesis/hypoplasia; femoral hypoplasia; femoral intercalary meromelia; hypoplasia of the femora; short femurs; short thighbone","Curated_Disease_Description_Source__c":"GARD:0001503","Curated_Disease_Description__c":"Femoral agenesis/hypoplasia (also known as congenital femoral deficiency or CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency or instability of the hip and knee joint may also be also present. The underlying cause of CFD typically is not known, but it does not appear to be inherited. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1987","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016032","ORPHANET_ID__c":"ORPHA:1987","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia/hipoplasia femoral aislada","Spanish_Description_Source__c":"ORPHA:1987","Spanish_Description__c":"El fémur corto congénito es una malformación poco frecuente de gravedad variable que va desde una leve hipoplasia a la ausencia completa del fémur.","Spanish_Disease_Name__c":"agenesia/hipoplasia femoral aislada","Spanish_GARD_Synonym__c":"deficiencia femoral congénita aislada; fémur corto congénito aislado; meromelia intercalar femoral 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":"Femoral agenesis/hypoplasia (also known as congenital femoral deficiency or CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency or instability of the hip and knee joint may also be also present. The underlying cause of CFD typically is not known, but it does not appear to be inherited. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.","Curated_Disease_Description_Source__c":"GARD:0001503","GARD_Synonym__c":"congenital hypoplasia of femur; congenital short femur; femoral agenesis/hypoplasia; femoral hypoplasia; femoral intercalary meromelia; hypoplasia of the femora; short femurs; short thighbone","Name":"Short femur","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"STEPS Worldwide","Website__c":"https://www.stepsworldwide.org/"},{"Account_Name__c":"Limbs 4 Kids","Website__c":"https://www.limbs4kids.org.au/"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1987"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1987"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1987","Source__c":"C0345375; MONDO:0016032","Xref__c":"ORPHA:1987"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93255008","Source__c":"C0345375; MONDO:0016032","Xref__c":"93255008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87499","Source__c":"C0345375","Xref__c":"MEDGEN:87499"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345375","Source__c":"C0345375","Xref__c":"C0345375"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016032","Source__c":"GARD:0001503","Xref__c":"MONDO:0016032"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003097","Source__c":"C0345375","Xref__c":"HP:0003097"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital hypoplasia of femur"," congenital short femur"," femoral agenesis/hypoplasia"," femoral hypoplasia"," femoral intercalary meromelia"," hypoplasia of the femora"," short femurs"," short thighbone"]}