{
    "disease_id": "DOID:0111348",
    "recommended_name": {
        "id": "DOID:0111348",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111348",
        "name": "multiple epiphyseal dysplasia with myopia and deafness",
        "description": "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111348",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111348",
            "name": "multiple epiphyseal dysplasia-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111348",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111348",
            "name": "EDMMD",
            "description": ""
        },
        {
            "id": "DOID:0111348",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111348",
            "name": "multiple epiphyseal dysplasia, Beighton type",
            "description": ""
        },
        {
            "id": "MONDO:0007562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007562",
            "name": "multiple epiphyseal dysplasia, Beighton type",
            "description": "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits."
        },
        {
            "id": "MONDO:0007562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007562",
            "name": "epiphyseal dysplasia, multiple, with myopia and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007562",
            "name": "multiple epiphyseal dysplasia-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007562",
            "name": "EDMMD",
            "description": ""
        },
        {
            "id": "MONDO:0007562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007562",
            "name": "epiphyseal dysplasia, multiple, with myopia and conductive deafness",
            "description": ""
        },
        {
            "id": "MIM:132450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/132450",
            "name": "Multiple epiphyseal dysplasia with myopia and conductive deafness",
            "description": "Multiple epiphyseal dysplasia with myopia and conductive deafness"
        }
    ]
}