{
    "disease_id": "DOID:0070556",
    "recommended_name": {
        "id": "DOID:0070556",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070556",
        "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1",
        "description": "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "CAMRQ syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "CAMRQ1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "DES-VLDLR",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR-CH",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "VLDLR-associated cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar hypoplasia, VLDLR-associated",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "dysequilibrium syndrome-VLDLR",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0070556",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070556",
            "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene."
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "VLDLR dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "dysequilibrium syndrome caused by mutation in VLDLR",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "CAMRQ1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, congenital, and intellectual disability, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, congenital, and mental retardation, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar hypoplasia, VLDLR-associated",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MIM:224050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224050",
            "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1",
            "description": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070556"
    ],
    "unlinked_id_list": []
}
