{
    "disease_id": "DOID:0050945",
    "recommended_name": {
        "id": "DOID:0050945",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050945",
        "name": "spastic ataxia 7",
        "description": "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs."
    },
    "synonyms": [
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "spastic ataxia 7",
            "description": "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present."
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "spastic ataxia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "spastic ataxia 7, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "autosomal dominant spastic ataxia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "spastic ataxia with congenital miosis",
            "description": ""
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "miosis, congenital, with spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007165",
            "name": "SPAX7",
            "description": ""
        }
    ]
}