{
    "disease_id": "DOID:0080058", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "autosomal recessive cerebellar ataxia-cognitive defect syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "cerebellar ataxia, autosomal recessive, spectrin-associated, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "SPARCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "spinocerebellar ataxia, autosomal recessive 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "spinocerebellar ataxia, autosomal recessive 14; SCAR14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "autosomal recessive spinocerebellar ataxia type 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "spectrin-associated autosomal recessive cerebellar ataxia type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "SPTBN2 autosomal recessive cerebellar ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "SPARCA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "SCAR14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "spectrin-associated autosomal recessive cerebellar ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "spinocerebellar ataxia, autosomal recessive type 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014159", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014159", 
            "name": "Ataxie spinocrbelleuse  dbut infantile avec retard psychomoteur"
        }, 
        {
            "url": "https://www.omim.org/entry/615386", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:615386", 
            "name": "Spinocerebellar ataxia, autosomal recessive, 14"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080058", 
        "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080058", 
        "name": "autosomal recessive spinocerebellar ataxia 14"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615386", 
            "id": "615386", 
            "database": "MIM"
        }
    ]
}