{
    "disease_id": "DOID:0111236",
    "recommended_name": {
        "id": "DOID:0111236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111236",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
            "description": ""
        },
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "MDDGA3",
            "description": ""
        },
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscle-eye-brain-POMGNT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "MDDGA3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
            "description": ""
        },
        {
            "id": "MIM:253280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253280",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111236"
    ],
    "unlinked_id_list": []
}