{
    "disease_id": "DOID:0080197",
    "recommended_name": {
        "id": "DOID:0080197",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080197",
        "name": "congenital muscular dystrophy with cataracts and intellectual disability",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "congenital muscular dystrophy with cataracts and intellectual disability",
            "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."
        },
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "MDCCAID",
            "description": ""
        },
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "muscular dystrophy, congenital, with cataracts and intellectual disability; MDCCAID",
            "description": ""
        },
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "muscular dystrophy, congenital, with cataracts and intellectual disability",
            "description": ""
        },
        {
            "id": "MIM:617404",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617404",
            "name": "Muscular dystrophy, congenital, with cataracts and intellectual disability",
            "description": "Muscular dystrophy, congenital, with cataracts and intellectual disability"
        }
    ]
}