{
    "disease_id": "DOID:0050559",
    "recommended_name": {
        "id": "DOID:0050559",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050559",
        "name": "Fukuyama congenital muscular dystrophy",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."
    },
    "synonyms": [
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Fukuyama congenital muscular dystrophy",
            "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment."
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Fukuyama congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, Fktn-related",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "FCMD",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "congenital muscular dystrophy, Fukuyama type",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "MDDGA4",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (Congenital with Brain and eye anomalies) type A, 4",
            "description": ""
        },
        {
            "id": "MIM:253800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253800",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4"
        }
    ]
}