{
    "disease_id": "DOID:0080058",
    "recommended_name": {
        "id": "DOID:0080058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080058",
        "name": "autosomal recessive spinocerebellar ataxia 14",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080058",
            "name": "SCAR14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive spinocerebellar ataxia 14",
            "description": "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)."
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "Ataxie spinocrbelleuse  dbut infantile avec retard psychomoteur",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SCAR14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPARCA",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPARCA1",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPTBN2 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive cerebellar ataxia-cognitive defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive spinocerebellar ataxia type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spectrin-associated autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spinocerebellar ataxia, autosomal recessive type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spinocerebellar ataxia, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MIM:615386",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615386",
            "name": "Spinocerebellar ataxia, autosomal recessive, 14",
            "description": "Spinocerebellar ataxia, autosomal recessive, 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080058"
    ],
    "unlinked_id_list": []
}