{
    "disease_id": "DOID:0111229",
    "recommended_name": {
        "id": "DOID:0111229",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111229",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."
    },
    "synonyms": [
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111229",
            "name": "klissencephaly type 2 with muscular and ocular involvement",
            "description": ""
        },
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111229",
            "name": "MDDGA",
            "description": ""
        },
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111229",
            "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "hard syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "cod-MD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "MDDGA1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "cerebroocular dysplasia-muscular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; MDDGA1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "hydrocephalus, agyria, and retinal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:236670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236670",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1"
        }
    ]
}