{
    "disease_id": "DOID:0081276",
    "recommended_name": {
        "id": "DOID:0081276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081276",
        "name": "cerebellar atrophy, visual impairment, and psychomotor retardation",
        "description": "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0081276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081276",
            "name": "CAVIPMR",
            "description": ""
        },
        {
            "id": "MONDO:0014811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014811",
            "name": "cerebellar atrophy, visual impairment, and psychomotor retardation;",
            "description": ""
        },
        {
            "id": "MONDO:0014811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014811",
            "name": "CAVIPMR",
            "description": ""
        },
        {
            "id": "MIM:616875",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616875",
            "name": "Cerebellar atrophy, visual impairment, and psychomotor retardation",
            "description": "Cerebellar atrophy, visual impairment, and psychomotor retardation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081276"
    ],
    "unlinked_id_list": []
}