{
    "disease_id": "DOID:0111240",
    "recommended_name": {
        "id": "DOID:0111240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111240",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A2",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111240",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2",
            "description": ""
        },
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111240",
            "name": "MDDGA2",
            "description": ""
        },
        {
            "id": "DOID:0111240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111240",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation."
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "MDDGA2",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscle-eye-brain-POMT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013154",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2",
            "description": ""
        },
        {
            "id": "MIM:613150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613150",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111240"
    ],
    "unlinked_id_list": []
}