{
    "disease_id": "DOID:0080252",
    "recommended_name": {
        "id": "DOID:0080252",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080252",
        "name": "spastic ataxia 8",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0033043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033043",
            "name": "SPAX8",
            "description": ""
        },
        {
            "id": "MIM:617560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617560",
            "name": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
            "description": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080252"
    ],
    "unlinked_id_list": []
}