{
    "disease_id": "DOID:0080066", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "autosomal recessive spinocerebellar ataxia type 20"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "spinocerebellar ataxia, autosomal recessive type 20"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "spinocerebellar ataxia, autosomal recessive 20"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "SNX14 autosomal recessive cerebellar ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "SCAR20"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SNX14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014601", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014601", 
            "name": "spinocerebellar ataxia, autosomal recessive 20; SCAR20"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080066", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080066", 
        "name": "autosomal recessive spinocerebellar ataxia 20"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080066#disease-associations", 
            "id": "0080066", 
            "database": "Alliance of Genome Resources"
        }
    ]
}