{
    "disease_id": "DOID:0080252", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033043", 
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033043", 
            "name": "SPAX8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033043", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033043", 
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy; SPAX8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080252", 
        "description": "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080252", 
        "name": "spastic ataxia 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080252#disease-associations", 
            "id": "0080252", 
            "database": "Alliance of Genome Resources"
        }
    ]
}