{"Name":"Amelia of lower limb","DiseaseID__c":"GARD:0021191","id":21191,"encodedName":"amelia-of-lower-limb","IsDeleted":false,"Disease_Name_Full__c":"Amelia of lower limb","Xref_IDs__c":"265798000; C0265621; MEDGEN:539370; MONDO:0017438; ORPHA:294969","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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017438","Disease_Description__c":"A non-syndromic amelia that involves the hindlimb.","GARD_Name__c":"Amelia of lower limb","GARD_Synonym__c":"congenital complete absence of lower limb; hindlimb non-syndromic amelia; non-syndromic amelia of hindlimb; transverse deficiency lower limb - hip level","Curated_Disease_Description_Source__c":"ORPHA:294969","Curated_Disease_Description__c":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294969","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017438","ORPHANET_ID__c":"ORPHA:294969","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amelia aislada de las extremidades inferiores","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amelia aislada de las extremidades inferiores","Spanish_GARD_Synonym__c":"ausencia congénita aislada de las extremidades inferiores","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, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","Curated_Disease_Description_Source__c":"ORPHA:294969","GARD_Synonym__c":"congenital complete absence of lower limb; hindlimb non-syndromic amelia; non-syndromic amelia of hindlimb; transverse deficiency lower limb - hip level","Name":"Amelia of lower limb","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/C0265621","Source__c":"C0265621","Xref__c":"C0265621"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539370","Source__c":"C0265621","Xref__c":"MEDGEN:539370"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=265798000","Source__c":"C0265621; MONDO:0017438","Xref__c":"265798000"},{"URL__c":"https://www.orpha.net/en/disease/detail/294969","Source__c":"C0265621; MONDO:0017438","Xref__c":"ORPHA:294969"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017438","Source__c":"GARD:0021191","Xref__c":"MONDO:0017438"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205203006","Source__c":"C0265621","Xref__c":"205203006"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital complete absence of lower limb"," hindlimb non-syndromic amelia"," non-syndromic amelia of hindlimb"," transverse deficiency lower limb - hip level"]}