{"Name":"Tibia vara","DiseaseID__c":"GARD:0000916","id":916,"encodedName":"tibia-vara","IsDeleted":false,"Disease_Name_Full__c":"Tibia vara","Xref_IDs__c":"79353000; C0175756; C118460; C536237; DOID:14798; MEDGEN:104499; MONDO:0017194; ORPHA:2768","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017194","Disease_Description__c":"Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.","GARD_Name__c":"Tibia vara","GARD_Synonym__c":"blount disease; blount's disease; familial infantile type osteochondrosis deformans tibiae; infantile tibia vara; juvenile osteochondrosis of proximal tibia; osteochondrosis deformans tibiae; tibia vara blount","Curated_Disease_Description_Source__c":"GARD:0000916","Curated_Disease_Description__c":"Blount disease is a growth disorder of the shin bone (tibia) characterized by inward turning of the lower leg (bowing) that slowly worsens over time. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease may occur in one or both legs and can lead to shortening of the affected leg and other changes within bones of the legs. The cause of Blount disease is not well understood; however, a variety of hereditary and genetic factors are likely involved. The condition is more common among certain populations and is associated with obesity and early walking.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2768","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017194","ORPHANET_ID__c":"ORPHA:2768","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de blount","Spanish_Description_Source__c":"ORPHA:2768","Spanish_Description__c":"Es una enfermedad caracterizada por un crecimiento anómalo de la porción interna de la extremidad tibial superior, lo que conduce progresivamente a una deformidad con las piernas arqueadas con angulación ósea justo debajo de la rodilla (tibia varo). En el 60% de los casos, la afección afecta a ambas piernas.","Spanish_Disease_Name__c":"enfermedad de blount","Spanish_GARD_Synonym__c":"osteocondrosis deformante de tibia; tibia vara de blount; tibia vara infantil","Category_Linearization__c":"ORPHA:93419","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":"Blount disease is a growth disorder of the shin bone (tibia) characterized by inward turning of the lower leg (bowing) that slowly worsens over time. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease may occur in one or both legs and can lead to shortening of the affected leg and other changes within bones of the legs. The cause of Blount disease is not well understood; however, a variety of hereditary and genetic factors are likely involved. The condition is more common among certain populations and is associated with obesity and early walking.","Curated_Disease_Description_Source__c":"GARD:0000916","GARD_Synonym__c":"blount disease; blount's disease; familial infantile type osteochondrosis deformans tibiae; infantile tibia vara; juvenile osteochondrosis of proximal tibia; osteochondrosis deformans tibiae; tibia vara blount","Name":"Tibia vara","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2768"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2768"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2768","Source__c":"C0175756; MONDO:0017194","Xref__c":"ORPHA:2768"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14798","Source__c":"MONDO:0017194","Xref__c":"DOID:14798"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118460","Source__c":"C0175756; MONDO:0017194","Xref__c":"C118460"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175756","Source__c":"C0175756","Xref__c":"C0175756"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104499","Source__c":"C0175756","Xref__c":"MEDGEN:104499"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536237","Source__c":"MONDO:0017194","Xref__c":"C536237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79353000","Source__c":"MONDO:0017194","Xref__c":"79353000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1344797002","Source__c":"C0175756","Xref__c":"1344797002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017194","Source__c":"GARD:0000916","Xref__c":"MONDO:0017194"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2768","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2768","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2768","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006491","HPO_Synonym__c":"Abnormality of the tibial metaphysis","HPO_Name__c":"Abnormal tibial metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2768","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040188","HPO_Name__c":"Osteochondrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2768","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the proximal epiphysis of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010591","HPO_Synonym__c":"Abnormality of the end part of innermost shankbone; Abnormality of the end part of innermost shinbone","HPO_Name__c":"Abnormality of the proximal tibial epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["blount disease"," blount's disease"," familial infantile type osteochondrosis deformans tibiae"," infantile tibia vara"," juvenile osteochondrosis of proximal tibia"," osteochondrosis deformans tibiae"," tibia vara blount"]}