{
    "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 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:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "hard syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "cerebroocular dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "Warburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "Walker-Warburg muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "cerebroocular dysplasia muscular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "hydrocephalus-agyria-retinal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "Pagon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "WWS",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "Chemke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "hydrocephalus, agyria and retinal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "cerebroocular dysplasia-muscular dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "hard +/- E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000171",
            "name": "Walker-Warburg 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 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": "muscle-eye-brain-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "hydrocephalus, agyria, and retinal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "muscle-eye-brain disease",
            "description": "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported."
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "MEB",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "muscle-eye-brain syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "muscle eye brain disease",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "MEB syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018939",
            "name": "Santavuori congenital muscular dystrophy",
            "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"
        },
        {
            "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"
        },
        {
            "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"
        }
    ]
}