{"Name":"Epiphyseal dysplasia, multiple, 3","DiseaseID__c":"GARD:0009792","id":9792,"encodedName":"epiphyseal-dysplasia-multiple-3","IsDeleted":false,"Disease_Name_Full__c":"Epiphyseal dysplasia, multiple, 3","Xref_IDs__c":"C1832998; C535503; DOID:0070304; MEDGEN:322091; MONDO:0010964; OMIM:600969","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:0010964","Disease_Description__c":"Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.","GARD_Name__c":"Epiphyseal dysplasia, multiple, 3","GARD_Synonym__c":"col9a3 multiple epiphyseal dysplasia (disease); col9a3-related multiple epiphyseal dysplasia; edm3; epiphyseal dysplasia, multiple, 3, with or without myopathy; epiphyseal dysplasia, multiple, type 3; multiple epiphyseal dysplasia (disease) caused by mutation in col9a3","Curated_Disease_Description_Source__c":"MEDGEN:C1832998","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:600969","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010964","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:C1832998","GARD_Synonym__c":"col9a3 multiple epiphyseal dysplasia (disease); col9a3-related multiple epiphyseal dysplasia; edm3; epiphyseal dysplasia, multiple, 3, with or without myopathy; epiphyseal dysplasia, multiple, type 3; multiple epiphyseal dysplasia (disease) caused by mutation in col9a3","Name":"Epiphyseal dysplasia, multiple, 3","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:C1832998"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009792","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1123","Source__c":"Gene Review","Xref__c":"NBK1123"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322091","Source__c":"C1832998","Xref__c":"MEDGEN:322091"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832998","Source__c":"C1832998","Xref__c":"C1832998"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535503","Source__c":"MONDO:0010964","Xref__c":"C535503"},{"URL__c":"https://www.omim.org/entry/600969","Source__c":"C1832998; MONDO:0010964","Xref__c":"OMIM:600969"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070304","Source__c":"MONDO:0010964","Xref__c":"DOID:0070304"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010964","Source__c":"GARD:0009792","Xref__c":"MONDO:0010964"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL9A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col9a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Description__c":"An abnormality of the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001384","HPO_Synonym__c":"Abnormality of the hip joint","HPO_Name__c":"Abnormal hip joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Description__c":"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003502","HPO_Synonym__c":"short stature, mild","HPO_Name__c":"Mild short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","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:600969","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:600969","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","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:600969","HPO_Frequency__c":"Frequent (30-79%)","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:600969","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002656","HPO_Synonym__c":"Abnormal development of the ends of long bones in arms and legs","HPO_Name__c":"Epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600969","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to extend (straighten) the knee joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003066","HPO_Synonym__c":"Limited knee straightening","HPO_Name__c":"Limited knee extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["col9a3 multiple epiphyseal dysplasia (disease)"," col9a3-related multiple epiphyseal dysplasia"," edm3"," epiphyseal dysplasia, multiple, 3, with or without myopathy"," epiphyseal dysplasia, multiple, type 3"," multiple epiphyseal dysplasia (disease) caused by mutation in col9a3"]}