{
    "disease_id": "DOID:0080197", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024607", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024607", 
            "name": "MDCCAID"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024607", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024607", 
            "name": "muscular dystrophy, congenital, with cataracts and intellectual disability; MDCCAID"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024607", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024607", 
            "name": "muscular dystrophy, congenital, with cataracts and intellectual disability"
        }, 
        {
            "url": "https://www.omim.org/entry/617404", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617404", 
            "name": "Muscular dystrophy, congenital, with cataracts and intellectual disability"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080197", 
        "description": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080197", 
        "name": "congenital muscular dystrophy with cataracts and intellectual disability"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617404", 
            "id": "617404", 
            "database": "MIM"
        }
    ]
}