{
    "disease_id": "DOID:0080719",
    "recommended_name": {
        "id": "DOID:0080719",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080719",
        "name": "congenital myopathy 6",
        "description": "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080719",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080719",
            "name": "inclusion body myopathy 3",
            "description": ""
        },
        {
            "id": "DOID:0080719",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080719",
            "name": "proximal myopathy and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "myopathy, proximal, and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "myopathy, proximal, and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "proximal myopathy and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "MYOPATHY, proximal, and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "MYPOP",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "inclusion body myopathy 3, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "inclusion body myopathy 3, autosomal dominant, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MIM:605637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605637",
            "name": "Myopathy, proximal, with ophthalmoplegia",
            "description": "Myopathy, proximal, with ophthalmoplegia"
        }
    ]
}