{
    "disease_id": "DOID:0081383",
    "recommended_name": {
        "id": "DOID:0081383",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081383",
        "name": "ataxia-oculomotor apraxia type 4",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia - oculomotor apraxia type 4",
            "description": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "AOA4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "PNKP oculomotor apraxia or related oculomotor disease",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia - oculomotor apraxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia-oculomotor apraxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0014557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014557",
            "name": "ataxia-oculomotor apraxia-4",
            "description": ""
        },
        {
            "id": "MIM:616267",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616267",
            "name": "Ataxia-oculomotor apraxia 4",
            "description": "Ataxia-oculomotor apraxia 4"
        }
    ]
}