{
    "disease_id": "DOID:0080719",
    "recommended_name": {
        "id": "DOID:0080719",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0080719",
            "name": "inclusion body myopathy 3",
            "description": ""
        },
        {
            "id": "DOID:0080719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080719",
            "name": "proximal myopathy and ophthalmoplegia",
            "description": ""
        },
        {
            "id": "DOID:0080719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080719",
            "name": "congenital myopathy 6 with ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "myopathy, proximal, and ophthalmoplegia",
            "description": "Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance."
        },
        {
            "id": "MONDO:0011577",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011577",
            "name": "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles",
            "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": "MIM:605637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605637",
            "name": "Congenital myopathy 6 with ophthalmoplegia",
            "description": "Congenital myopathy 6 with ophthalmoplegia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080719"
    ],
    "unlinked_id_list": []
}