{
    "disease_id": "DOID:0050766",
    "recommended_name": {
        "id": "DOID:0050766",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050766",
        "name": "choreaacanthocytosis",
        "description": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0050766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050766",
            "name": "Levine-Critchley syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050766",
            "name": "choreo-acanthocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "VPS13A-related neurodegenerative disease",
            "description": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene."
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "CHAC",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "Chac",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "Levine-Critchley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "VPS13A disease",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "chorea-acanthocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "choreoacanthocytosis",
            "description": ""
        },
        {
            "id": "MIM:200150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200150",
            "name": "Choreoacanthocytosis",
            "description": "Choreoacanthocytosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050766"
    ],
    "unlinked_id_list": []
}
