{
    "disease_id": "DOID:0080197",
    "recommended_name": {
        "id": "DOID:0080197",
        "resource": "Disease Ontology",
        "url": "https://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": "DOID:0080197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080197",
            "name": "congenital muscular dystrophy with cataracts and impaired intellectual development",
            "description": ""
        },
        {
            "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": "MIM:617404",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617404",
            "name": "Muscular dystrophy, congenital, with cataracts and impaired intellectual development",
            "description": "Muscular dystrophy, congenital, with cataracts and impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080197"
    ],
    "unlinked_id_list": []
}