{
    "disease_id": "DOID:0050754", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "EAOH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia, adult-onset, with oculomotor apraxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia-oculomotor apraxia 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia-telangiectasia-like syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia-oculomotor apraxia type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "EOCA-HA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "cerebellar ataxia, early-onset, with hypoalbuminemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "early-onset cerebellar ataxia with hypoalbuminemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "APTX oculomotor apraxia or related oculomotor disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "AOA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "ataxia-oculomotor apraxia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008842", 
            "name": "oculomotor apraxia or related oculomotor disease caused by mutation in APTX"
        }, 
        {
            "url": "https://www.omim.org/entry/208920", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:208920", 
            "name": "Ataxia-oculomotor apraxia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050754", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050754", 
        "name": "ataxia with oculomotor apraxia type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/208920", 
            "id": "208920", 
            "database": "MIM"
        }
    ]
}