{"Name":"Congenital knee dislocation","DiseaseID__c":"GARD:0021211","id":21211,"encodedName":"congenital-knee-dislocation","IsDeleted":false,"Disease_Name_Full__c":"Congenital knee dislocation","Xref_IDs__c":"59068006; C0265669; HP:0005191; MEDGEN:75582; MONDO:0017470; ORPHA:295034","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:295034","Disease_Description__c":"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).","GARD_Name__c":"Congenital knee dislocation","GARD_Synonym__c":"congenital dislocation of knee; congenital knee dislocation (disease); dislocated knee since birth","Curated_Disease_Description_Source__c":"ORPHA:295034","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e.g., Larsen's syndrome, arthrogryposis multiplex congenita).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295034","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017470","ORPHANET_ID__c":"ORPHA:295034","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Luxación congénita de la rodilla","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"luxación congénita de la rodilla","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 congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e.g., Larsen's syndrome, arthrogryposis multiplex congenita).","Curated_Disease_Description_Source__c":"ORPHA:295034","GARD_Synonym__c":"congenital dislocation of knee; congenital knee dislocation (disease); dislocated knee since birth","Name":"Congenital knee dislocation","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=59068006","Source__c":"C0265669; MONDO:0017470","Xref__c":"59068006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75582","Source__c":"C0265669","Xref__c":"MEDGEN:75582"},{"URL__c":"https://www.orpha.net/en/disease/detail/295034","Source__c":"C0265669; MONDO:0017470; ORPHA:295034","Xref__c":"ORPHA:295034"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265669","Source__c":"C0265669","Xref__c":"C0265669"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005191","Source__c":"C0265669","Xref__c":"HP:0005191"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017470","Source__c":"GARD:0021211","Xref__c":"MONDO:0017470"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital dislocation of knee"," congenital knee dislocation (disease)"," dislocated knee since birth"]}