{
    "disease_id": "DOID:0111833",
    "recommended_name": {
        "id": "DOID:0111833",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111833",
        "name": "X-linked spinocerebellar ataxia 5",
        "description": "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111833",
            "name": "X-linked non progressive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111833",
            "name": "SCAX5",
            "description": ""
        },
        {
            "id": "MONDO:0010404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010404",
            "name": "X-linked non progressive cerebellar ataxia",
            "description": "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."
        },
        {
            "id": "MONDO:0010404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010404",
            "name": "X-linked spinocerebellar ataxia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010404",
            "name": "spinocerebellar ataxia, X-linked 5",
            "description": ""
        },
        {
            "id": "MONDO:0010404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010404",
            "name": "spinocerebellar ataxia, X-linked 5; SCAX5",
            "description": ""
        },
        {
            "id": "MONDO:0010404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010404",
            "name": "SCAX5",
            "description": ""
        }
    ]
}