{"Name":"Epiphyseal dysplasia, multiple, 6","DiseaseID__c":"GARD:0013376","id":13376,"encodedName":"epiphyseal-dysplasia-multiple-6","IsDeleted":false,"Disease_Name_Full__c":"Epiphyseal dysplasia, multiple, 6","Xref_IDs__c":"C2675767; DOID:0070301; MEDGEN:436517; MONDO:0013591; OMIM:614135","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013591","Disease_Description__c":"Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.","GARD_Name__c":"Epiphyseal dysplasia, multiple, 6","GARD_Synonym__c":"col9a1 multiple epiphyseal dysplasia (disease); col9a1-related multiple epiphyseal dysplasia; epiphyseal dysplasia, multiple, type 6; multiple epiphyseal dysplasia (disease) caused by mutation in col9a1","Curated_Disease_Description_Source__c":"MEDGEN:C2675767","Curated_Disease_Description__c":"Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614135","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013591","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.","Curated_Disease_Description_Source__c":"MEDGEN:C2675767","GARD_Synonym__c":"col9a1 multiple epiphyseal dysplasia (disease); col9a1-related multiple epiphyseal dysplasia; epiphyseal dysplasia, multiple, type 6; multiple epiphyseal dysplasia (disease) caused by mutation in col9a1","Name":"Epiphyseal dysplasia, multiple, 6","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675767"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013376","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1123","Source__c":"Gene Review","Xref__c":"NBK1123"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675767","Source__c":"C2675767","Xref__c":"C2675767"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070301","Source__c":"MONDO:0013591","Xref__c":"DOID:0070301"},{"URL__c":"https://www.omim.org/entry/614135","Source__c":"C2675767; MONDO:0013591","Xref__c":"OMIM:614135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436517","Source__c":"C2675767","Xref__c":"MEDGEN:436517"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013591","Source__c":"GARD:0013376","Xref__c":"MONDO:0013591"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL9A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col9a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614135","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition of the intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005645","HPO_Synonym__c":"Multiple intervertebral disk calcifications","HPO_Name__c":"Intervertebral disk calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","Feature__r":{"HPO_Description__c":"An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010582","HPO_Synonym__c":"Irregular end part of long bone","HPO_Name__c":"Irregular epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002654","HPO_Name__c":"Multiple epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","Feature__r":{"HPO_Description__c":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003301","HPO_Synonym__c":"end-plate irregularities; endplate irregularities; endplate irregularity; Irregular end plates; Irregular endplates; irregular vertebral plates; vertebral endplate irregularity","HPO_Name__c":"Irregular vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","Feature__r":{"HPO_Description__c":"Reduction in the size or volume of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010585","HPO_Synonym__c":"Small end part of bone","HPO_Name__c":"Small epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","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":"OMIM:614135","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":"OMIM:614135","Feature__r":{"HPO_Description__c":"Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006407","HPO_Synonym__c":"Irregular outermost thighbone end part","HPO_Name__c":"Irregular distal femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030041","HPO_Synonym__c":"Schmorl's nodes","HPO_Name__c":"Schmorl's node","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614135","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":"OMIM:614135","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":"OMIM:614135","Feature__r":{"HPO_Description__c":"An abnormal flattening of the distal epiphysis of femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006398","HPO_Synonym__c":"Flat end part of outermost thighbone; Flattened distal femoral epiphyses","HPO_Name__c":"Flat distal femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["col9a1 multiple epiphyseal dysplasia (disease)"," col9a1-related multiple epiphyseal dysplasia"," epiphyseal dysplasia, multiple, type 6"," multiple epiphyseal dysplasia (disease) caused by mutation in col9a1"]}