{
    "disease_id": "DOID:0111231",
    "recommended_name": {
        "id": "DOID:0111231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111231",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A8",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8",
            "description": ""
        },
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "MDDGA8",
            "description": ""
        },
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene."
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "POMGNT2 muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscle-eye-brain-POMGNT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "MDDGA8",
            "description": ""
        },
        {
            "id": "MIM:614830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614830",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111231"
    ],
    "unlinked_id_list": []
}