{
    "disease_id": "DOID:0111242", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "MDDGA6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, large-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013158", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013158", 
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; MDDGA6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111242", 
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111242", 
            "name": "MDDGA6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111242", 
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6"
        }, 
        {
            "url": "https://www.omim.org/entry/613154", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613154", 
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111242", 
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111242", 
        "name": "congenital muscular dystrophy-dystroglycanopathy type A6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613154", 
            "id": "613154", 
            "database": "MIM"
        }, 
        {
            "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details", 
            "id": "LARGE1", 
            "database": "Genomics England"
        }
    ]
}