{"Name":"Congenital absence of both lower leg and foot","DiseaseID__c":"GARD:0021195","id":21195,"encodedName":"congenital-absence-of-both-lower-leg-and-foot","IsDeleted":false,"Disease_Name_Full__c":"Congenital absence of both lower leg and foot","Xref_IDs__c":"278532000; C0431991; MEDGEN:609276; MONDO:0017444; ORPHA:294981; Q72.2","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:294981","Disease_Description__c":"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.","GARD_Name__c":"Congenital absence of both lower leg and foot","GARD_Synonym__c":"hemimelia - knee level; tibiofibular terminal transverse meromelia; transverse deficiency lower limb - knee level","Curated_Disease_Description_Source__c":"ORPHA:294981","Curated_Disease_Description__c":"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294981","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017444","ORPHANET_ID__c":"ORPHA:294981","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia aislada de la parte inferior de la pierna y del pie","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ausencia aislada de la parte inferior de la pierna y del pie","Spanish_GARD_Synonym__c":"meromelia terminal transversa 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":"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.","Curated_Disease_Description_Source__c":"ORPHA:294981","GARD_Synonym__c":"hemimelia - knee level; tibiofibular terminal transverse meromelia; transverse deficiency lower limb - knee level","Name":"Congenital absence of both lower leg and 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.orpha.net/en/disease/detail/294981","Source__c":"C0431991; MONDO:0017444","Xref__c":"ORPHA:294981"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=278532000","Source__c":"C0431991; MONDO:0017444","Xref__c":"278532000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431991","Source__c":"C0431991","Xref__c":"C0431991"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=609276","Source__c":"C0431991","Xref__c":"MEDGEN:609276"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q72.2","Source__c":"MONDO:0017444","Xref__c":"Q72.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017444","Source__c":"GARD:0021195","Xref__c":"MONDO:0017444"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["hemimelia - knee level"," tibiofibular terminal transverse meromelia"," transverse deficiency lower limb - knee level"]}