{"Name":"Congenital absence of thigh and lower leg with foot present","DiseaseID__c":"GARD:0021193","id":21193,"encodedName":"congenital-absence-of-thigh-and-lower-leg-with-foot-present","IsDeleted":false,"Disease_Name_Full__c":"Congenital absence of thigh and lower leg with foot present","Xref_IDs__c":"55852007; C0265626; MEDGEN:539373; MONDO:0017442; ORPHA:294977; Q72.1","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:294977","Disease_Description__c":"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.","GARD_Name__c":"Congenital absence of thigh and lower leg with foot present","GARD_Synonym__c":"complete phocomelia of lower limb; congenital absence of thigh and leg; femorotibiofibular intercalary transverse meromelia","Curated_Disease_Description_Source__c":"ORPHA:294977","Curated_Disease_Description__c":"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:294977","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017442","ORPHANET_ID__c":"ORPHA:294977","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia aislada del muslo y la parte baja de la pierna con presencia del pie","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ausencia aislada del muslo y la parte baja de la pierna con presencia del pie","Spanish_GARD_Synonym__c":"meromelia intercalar transversa congénita aislada de fémur-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 thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.","Curated_Disease_Description_Source__c":"ORPHA:294977","GARD_Synonym__c":"complete phocomelia of lower limb; congenital absence of thigh and leg; femorotibiofibular intercalary transverse meromelia","Name":"Congenital absence of thigh and lower leg with foot present","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://browser.ihtsdotools.org/?perspective=full&conceptId1=55852007","Source__c":"C0265626; MONDO:0017442","Xref__c":"55852007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539373","Source__c":"C0265626","Xref__c":"MEDGEN:539373"},{"URL__c":"https://www.orpha.net/en/disease/detail/294977","Source__c":"C0265626; MONDO:0017442","Xref__c":"ORPHA:294977"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q72.1","Source__c":"MONDO:0017442","Xref__c":"Q72.1"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265626","Source__c":"C0265626","Xref__c":"C0265626"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017442","Source__c":"GARD:0021193","Xref__c":"MONDO:0017442"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["complete phocomelia of lower limb"," congenital absence of thigh and leg"," femorotibiofibular intercalary transverse meromelia"]}