{"Name":"Hemihypertrophy of lower limb","DiseaseID__c":"GARD:0021213","id":21213,"encodedName":"hemihypertrophy-of-lower-limb","IsDeleted":false,"Disease_Name_Full__c":"Hemihypertrophy of lower limb","Xref_IDs__c":"C0431928; HP:0100553; MEDGEN:451056; MONDO:0017477; ORPHA:295051","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:0017477","Disease_Description__c":"A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.","GARD_Name__c":"Hemihypertrophy of lower limb","GARD_Synonym__c":"congenital overgrowth of lower limb; lower limb hypertrophy; overgrowth of one leg","Curated_Disease_Description_Source__c":"MONDO:0017477","Curated_Disease_Description__c":"A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295051","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017477","ORPHANET_ID__c":"ORPHA:295051","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertrofia de las extremidades inferiores","Spanish_Description_Source__c":"ORPHA:295051","Spanish_Description__c":"Es un defecto del desarrollo durante la embriogénesis no-sindrómico, genético y poco frecuente, caracterizado por sobrecrecimiento uni- o bilateral de las extremidades inferiores afectando a huesos y/o tejidos blandos y que resulta en un aumento anómalo de la longitud y/o anchura de las piernas. La hipertrofia se manifiesta, bien como un crecimiento excesivo y proporcionado de toda la extremidad, o afectando únicamente a las partes proximales o distales de la misma. El fenotipo varía desde una hipertrofia leve sin discapacidad funcional hasta un miembro gravemente hipertrofiado con flexión de rodilla y contracturas en equino del tobillo y macrodistrofia lipomatosa. Los afectados también pueden presentar anomalías vasculares (por ejemplo, angiomas cutáneos, venas varicosas) y mialgia.","Spanish_Disease_Name__c":"hipertrofia de las extremidades inferiores","Spanish_GARD_Synonym__c":null,"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, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.","Curated_Disease_Description_Source__c":"MONDO:0017477","GARD_Synonym__c":"congenital overgrowth of lower limb; lower limb hypertrophy; overgrowth of one leg","Name":"Hemihypertrophy 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://www.orpha.net/en/disease/detail/295051","Source__c":"MONDO:0017477","Xref__c":"ORPHA:295051"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017477","Source__c":"GARD:0021213","Xref__c":"MONDO:0017477"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100553","Source__c":"C0431928","Xref__c":"HP:0100553"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205369009","Source__c":"C0431928","Xref__c":"205369009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=451056","Source__c":"C0431928","Xref__c":"MEDGEN:451056"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431928","Source__c":"C0431928","Xref__c":"C0431928"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital overgrowth of lower limb"," lower limb hypertrophy"," overgrowth of one leg"]}