{
    "disease_id": "DOID:0050943",
    "recommended_name": {
        "id": "DOID:0050943",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050943",
        "name": "spastic ataxia 4",
        "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia 4",
            "description": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene."
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "MTPAP autosomal recessive spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "SPAX4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia caused by mutation in MTPAP",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia - optic atrophy - dysarthria",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "autosomal recessive spastic ataxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0013354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013354",
            "name": "spastic ataxia 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:613672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613672",
            "name": "Spastic ataxia 4, autosomal recessive",
            "description": "Spastic ataxia 4, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050943"
    ],
    "unlinked_id_list": []
}