{
    "disease_id": "DOID:0080060",
    "recommended_name": {
        "id": "DOID:0080060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080060",
        "name": "autosomal recessive spinocerebellar ataxia 12",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080060",
            "name": "SCAR12",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "autosomal recessive spinocerebellar ataxia 12",
            "description": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI."
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "SCAR12",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "autosomal recessive spinocerebellar ataxia 12",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "autosomal recessive spinocerebellar ataxia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "spinocerebellar ataxia, autosomal recessive type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "spinocerebellar ataxia with mental retardation and epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013687",
            "name": "spinocerebellar ataxia, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MIM:614322",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614322",
            "name": "Spinocerebellar ataxia, autosomal recessive, 12",
            "description": "Spinocerebellar ataxia, autosomal recessive, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080060"
    ],
    "unlinked_id_list": []
}