{
    "disease_id": "DOID:0050754",
    "recommended_name": {
        "id": "DOID:0050754",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050754",
        "name": "ataxia with oculomotor apraxia type 1",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia with oculomotor apraxia type 1",
            "description": "Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia."
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "EAOH",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia, adult-onset, with oculomotor apraxia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia-oculomotor apraxia 1",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia-telangiectasia-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia-oculomotor apraxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "EOCA-HA",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "cerebellar ataxia, early-onset, with hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "early-onset cerebellar ataxia with hypoalbuminemia",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "APTX oculomotor apraxia or related oculomotor disease",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "AOA1",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "ataxia-oculomotor apraxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008842",
            "name": "oculomotor apraxia or related oculomotor disease caused by mutation in APTX",
            "description": ""
        },
        {
            "id": "MIM:208920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208920",
            "name": "Ataxia-oculomotor apraxia syndrome",
            "description": "Ataxia-oculomotor apraxia syndrome"
        }
    ]
}