{
    "disease_id": "DOID:0050997",
    "recommended_name": {
        "id": "DOID:0050997",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050997",
        "name": "cerebellar ataxia, mental retardation and dysequlibrium syndrome",
        "description": "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia."
    },
    "synonyms": [
        {
            "id": "DOID:0050997",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050997",
            "name": "CAMRQ",
            "description": ""
        },
        {
            "id": "DOID:0050997",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050997",
            "name": "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)",
            "description": ""
        },
        {
            "id": "DOID:0050997",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050997",
            "name": "VLDLR Cerebellar Hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene."
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "ATP8A2 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; CAMRQ4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "CAMRQ4",
            "description": ""
        },
        {
            "id": "MONDO:0014104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014104",
            "name": "dysequilibrium syndrome caused by mutation in ATP8A2",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, 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": "CAMRQ1",
            "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 hypoplasia, VLDLR-associated",
            "description": ""
        },
        {
            "id": "MONDO:0024542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024542",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; CAMRQ1",
            "description": ""
        },
        {
            "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": "dysequilibrium syndrome",
            "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": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene."
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "CA8 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "dysequilibrium syndrome caused by mutation in CA8",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "CAMRQ3",
            "description": ""
        },
        {
            "id": "MONDO:0013188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013188",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",
            "description": "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene."
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "dysequilibrium syndrome caused by mutation in WDR81",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; CAMRQ2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "CAMRQ2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "WDR81 dysequilibrium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2",
            "description": ""
        },
        {
            "id": "MONDO:0012430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012430",
            "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:615268",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615268",
            "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",
            "description": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4"
        },
        {
            "id": "MIM:224050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224050",
            "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",
            "description": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"
        },
        {
            "id": "MIM:613227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613227",
            "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",
            "description": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"
        },
        {
            "id": "MIM:610185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610185",
            "name": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",
            "description": "Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"
        }
    ]
}