{
    "disease_id": "DOID:0111743",
    "recommended_name": {
        "id": "DOID:0111743",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111743",
        "name": "cerebellar ataxia type 47",
        "description": "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111743",
            "name": "SCA47",
            "description": ""
        },
        {
            "id": "DOID:0111743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111743",
            "name": "PUM1-associated developmental disability-ataxia-seizure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "spinocerebellar ataxia 47",
            "description": "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "PUM1-related cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "spinocerebellar ataxia 47",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "SCA47",
            "description": ""
        },
        {
            "id": "MONDO:0958231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958231",
            "name": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",
            "description": "Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene."
        },
        {
            "id": "MONDO:0958231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958231",
            "name": "PUM1-associated developmental disability-ataxia-seizure syndrome",
            "description": ""
        },
        {
            "id": "MIM:620719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620719",
            "name": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",
            "description": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111743"
    ],
    "unlinked_id_list": []
}