{
    "disease_id": "DOID:0050994", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012982", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012982", 
            "name": "SLC1A3 hereditary episodic ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012982", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012982", 
            "name": "hereditary episodic ataxia caused by mutation in SLC1A3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012982", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012982", 
            "name": "EA6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012982", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012982", 
            "name": "episodic ataxia, type 6; EA6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012982", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012982", 
            "name": "episodic ataxia, type 6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050994", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050994", 
        "name": "episodic ataxia type 6"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050994#disease-associations", 
            "id": "0050994", 
            "database": "Alliance of Genome Resources"
        }
    ]
}