{
    "disease_id": "DOID:0050993",
    "recommended_name": {
        "id": "DOID:0050993",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050993",
        "name": "episodic ataxia type 5",
        "description": "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "episodic ataxia type 5",
            "description": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours."
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "CACNB4 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "hereditary episodic ataxia caused by mutation in CACNB4",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "EA5",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "episodic ataxia, type 5",
            "description": ""
        },
        {
            "id": "MIM:613855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613855",
            "name": "Episodic ataxia 5",
            "description": "Episodic ataxia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050993"
    ],
    "unlinked_id_list": []
}