{
    "disease_id": "DOID:0050989",
    "recommended_name": {
        "id": "DOID:0050989",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050989",
        "name": "episodic ataxia type 1",
        "description": "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1."
    },
    "synonyms": [
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia type 1",
            "description": "A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "EA1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "Isaacs-Mertens syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "KCNA1 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "acetazolamide-responsive periodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "ataxia, episodic, with myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "continuous muscle fiber activity",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia with myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia/myokymia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "familial paroxysmal kinesigenic ataxia and continuous myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "hereditary episodic ataxia caused by mutation in KCNA1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "hereditary paroxysmal ataxia with neuromyotonia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "myokymia with episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "myokymia with periodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "paroxysmal ataxia with neuromyotonia, hereditary",
            "description": ""
        },
        {
            "id": "MIM:160120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/160120",
            "name": "Episodic ataxia 1",
            "description": "Episodic ataxia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050989"
    ],
    "unlinked_id_list": []
}