{
    "disease_id": "DOID:0050560", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0050560", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050560", 
            "name": "HARD syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050560", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050560", 
            "name": "cerebroocular dysplasia-muscular dystrophy syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050560", 
        "description": "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050560", 
        "name": "Walker-Warburg syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050560#disease-associations", 
            "id": "0050560", 
            "database": "Alliance of Genome Resources"
        }
    ]
}