{
    "disease_id": "DOID:0070303",
    "recommended_name": {
        "id": "DOID:0070303",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070303",
        "name": "multiple epiphyseal dysplasia 1",
        "description": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070303",
            "name": "EDM1",
            "description": ""
        },
        {
            "id": "DOID:0070303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070303",
            "name": "MED1",
            "description": ""
        },
        {
            "id": "DOID:0070303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070303",
            "name": "multiple epiphyseal dysplasia COMP-related",
            "description": ""
        },
        {
            "id": "DOID:0070303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070303",
            "name": "polyepiphyseal dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "multiple epiphyseal dysplasia type 1",
            "description": "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission."
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "COMP multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "EDM1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "MED1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "Polyepiphyseal dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "epiphyseal dysplasia, multiple, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COMP",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "epiphyseal dysplasia multiple 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "epiphyseal dysplasia, Fairbank type",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "epiphyseal dysplasia, multiple, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "epiphyseal dysplasia, ribbing type",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "multiple epiphyseal dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "multiple epiphyseal dysplasia COMP-related",
            "description": ""
        },
        {
            "id": "MONDO:0007561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007561",
            "name": "multiple epiphyseal dysplasia, Comp-related",
            "description": ""
        },
        {
            "id": "MIM:132400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/132400",
            "name": "Multiple epiphyseal dysplasia 1",
            "description": "Multiple epiphyseal dysplasia 1"
        }
    ]
}