{
    "disease_id": "DOID:0080066",
    "recommended_name": {
        "id": "DOID:0080066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080066",
        "name": "autosomal recessive spinocerebellar ataxia 20",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080066",
            "name": "SCAR20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive spinocerebellar ataxia 20",
            "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene."
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "SCAR20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "SNX14 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SNX14",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive spinocerebellar ataxia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "spinocerebellar ataxia, autosomal recessive type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "spinocerebellar ataxia, autosomal recessive 20",
            "description": ""
        },
        {
            "id": "MIM:616354",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616354",
            "name": "Spinocerebellar ataxia, autosomal recessive, 20",
            "description": "Spinocerebellar ataxia, autosomal recessive, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080066"
    ],
    "unlinked_id_list": []
}