{
    "disease_id": "DOID:0050994",
    "recommended_name": {
        "id": "DOID:0050994",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050994",
        "name": "episodic ataxia type 6",
        "description": "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia type 6",
            "description": "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "SLC1A3 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "hereditary episodic ataxia caused by mutation in SLC1A3",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "EA6",
            "description": ""
        },
        {
            "id": "MONDO:0012982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012982",
            "name": "episodic ataxia, type 6",
            "description": ""
        },
        {
            "id": "MIM:612656",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612656",
            "name": "Episodic ataxia 6",
            "description": "Episodic ataxia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050994"
    ],
    "unlinked_id_list": []
}