{
    "disease_id": "DOID:0050990",
    "recommended_name": {
        "id": "DOID:0050990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050990",
        "name": "episodic ataxia type 2",
        "description": "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A."
    },
    "synonyms": [
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "episodic ataxia type 2",
            "description": "A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia."
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "CACNA1A hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "episodic ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "hereditary episodic ataxia caused by mutation in CACNA1A",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "APCA",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "Acetazolamide-responsive episodic ataxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "CAPA",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "EA2",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "Nystagmus-associated episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "ataxia, familial, paroxysmal",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "episodic ataxia with nystagmus",
            "description": ""
        },
        {
            "id": "MONDO:0007163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007163",
            "name": "episodic ataxia, type 2",
            "description": ""
        },
        {
            "id": "MIM:108500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108500",
            "name": "Episodic ataxia 2",
            "description": "Episodic ataxia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050990"
    ],
    "unlinked_id_list": []
}