{"Name":"Upington disease","DiseaseID__c":"GARD:0005421","id":5421,"encodedName":"upington-disease","IsDeleted":false,"Disease_Name_Full__c":"Upington disease","Xref_IDs__c":"719041000; C1860596; C536472; MEDGEN:348145; MONDO:0008624; OMIM:191520; ORPHA:3408","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008624","Disease_Description__c":"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.","GARD_Name__c":"Upington disease","GARD_Synonym__c":"hip dysplasia with enchondromata and ecchondroma syndrome; hip dysplasia-enchondromata-ecchondroma syndrome; perthes-like hip disease, enchondromata, and ecchondromata","Curated_Disease_Description_Source__c":"MONDO:0008624","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3408","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008624","ORPHANET_ID__c":"ORPHA:3408","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de upington","Spanish_Description_Source__c":"ORPHA:3408","Spanish_Description__c":"Es una displasia ósea primaria caracterizada por anomalías pélvicas similares a las de la enfermedad de Perthes (cierre prematuro de la epífisis femoral capital y cuello femoral ensanchado con cabeza femoral aplanada), artralgias de caderas y rodillas, y aparición de encondromas y excondromas. No ha habido más descripciones en la literatura desde 1971.","Spanish_Disease_Name__c":"enfermedad de upington","Spanish_GARD_Synonym__c":null,"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":"A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971.","Curated_Disease_Description_Source__c":"MONDO:0008624","GARD_Synonym__c":"hip dysplasia with enchondromata and ecchondroma syndrome; hip dysplasia-enchondromata-ecchondroma syndrome; perthes-like hip disease, enchondromata, and ecchondromata","Name":"Upington disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:3408"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348145","Source__c":"C1860596","Xref__c":"MEDGEN:348145"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719041000","Source__c":"C1860596; MONDO:0008624","Xref__c":"719041000"},{"URL__c":"https://www.orpha.net/en/disease/detail/3408","Source__c":"C1860596; MONDO:0008624; ORPHA:3408","Xref__c":"ORPHA:3408"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860596","Source__c":"C1860596","Xref__c":"C1860596"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536472","Source__c":"MONDO:0008624","Xref__c":"C536472"},{"URL__c":"https://www.omim.org/entry/191520","Source__c":"C1860596; MONDO:0008624; ORPHA:3408","Xref__c":"OMIM:191520"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008624","Source__c":"GARD:0005421","Xref__c":"MONDO:0008624"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010588","HPO_Synonym__c":"Premature closure of epiphyses","HPO_Name__c":"Premature epimetaphyseal fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain affecting the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003365","HPO_Synonym__c":"Coxalgia; Hip arthralgia; Hip joint pain","HPO_Name__c":"Arthralgia of the hip","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal flattening of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003370","HPO_Synonym__c":"Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses","HPO_Name__c":"Flat capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006429","HPO_Synonym__c":"Broadening of femoral neck; Wide femoral neck; Wide neck of thigh bone; Widened femoral necks","HPO_Name__c":"Broad femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030038","HPO_Name__c":"Enchondroma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["hip dysplasia with enchondromata and ecchondroma syndrome"," hip dysplasia-enchondromata-ecchondroma syndrome"," perthes-like hip disease, enchondromata, and ecchondromata"]}