{"Name":"Absent foot","DiseaseID__c":"GARD:0021197","id":21197,"encodedName":"absent-foot","IsDeleted":false,"Disease_Name_Full__c":"Absent foot","Xref_IDs__c":"371197005; C0265624; HP:0011301; MEDGEN:488816; MONDO:0017446; ORPHA:294986","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":"ORPHA:294986","Disease_Description__c":"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.","GARD_Name__c":"Absent foot","GARD_Synonym__c":"agenesis of foot; aplasia of the foot; apodia; congenital absence of foot; transverse deficiency lower limb - ankle level","Curated_Disease_Description_Source__c":"ORPHA:294986","Curated_Disease_Description__c":"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294986","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017446","ORPHANET_ID__c":"ORPHA:294986","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Apodia aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"apodia aislada","Spanish_GARD_Synonym__c":"ausencia congénita aislada del pie","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 congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.","Curated_Disease_Description_Source__c":"ORPHA:294986","GARD_Synonym__c":"agenesis of foot; aplasia of the foot; apodia; congenital absence of foot; transverse deficiency lower limb - ankle level","Name":"Absent foot","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://www.ncbi.nlm.nih.gov/medgen/?term=488816","Source__c":"C0265624","Xref__c":"MEDGEN:488816"},{"URL__c":"https://www.orpha.net/en/disease/detail/294986","Source__c":"C0265624; MONDO:0017446","Xref__c":"ORPHA:294986"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265624","Source__c":"C0265624","Xref__c":"C0265624"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371197005","Source__c":"C0265624; MONDO:0017446","Xref__c":"371197005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011301","Source__c":"C0265624","Xref__c":"HP:0011301"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017446","Source__c":"GARD:0021197","Xref__c":"MONDO:0017446"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003509004","Source__c":"C0265624","Xref__c":"1003509004"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["agenesis of foot"," aplasia of the foot"," apodia"," congenital absence of foot"," transverse deficiency lower limb - ankle level"]}