{
    "disease_id": "DOID:0050944", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "autosomal recessive spastic ataxia type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "autosomal recessive spastic ataxia caused by mutation in AFG3L2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "AFG3L2-related spastic ataxia-neuropathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "SPAX5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "spastic ataxia 5, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "AFG3L2 autosomal recessive spastic ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "spastic ataxia type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013776", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013776", 
            "name": "spastic ataxia 5, autosomal recessive; SPAX5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050944", 
        "description": "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050944", 
        "name": "spastic ataxia 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050944#disease-associations", 
            "id": "0050944", 
            "database": "Alliance of Genome Resources"
        }
    ]
}