{
    "disease_id": "DOID:0050588",
    "recommended_name": {
        "id": "DOID:0050588",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050588",
        "name": "muscular dystrophy-dystroglycanopathy type B1",
        "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."
    },
    "synonyms": [
        {
            "id": "DOID:0050588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050588",
            "name": "CMD due to dystroglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0050588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050588",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "congenital muscular dystrophy-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "MDDGB1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1",
            "description": ""
        },
        {
            "id": "MIM:613155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613155",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050588"
    ],
    "unlinked_id_list": []
}