{
    "disease_id": "DOID:0060491",
    "recommended_name": {
        "id": "DOID:0060491",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060491",
        "name": "SPOAN syndrome",
        "description": "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060491",
            "name": "spastic paraplegia, optic atropy, and neuropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060491",
            "name": "spastic paraplegia, optic atropy, and neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "spastic paraplegia, optic atropy, and neuropathy",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2."
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "SPOAN",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "SPOAN syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "spastic paraplegia-optic atrophy-neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MIM:609541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609541",
            "name": "Spastic paraplegia, optic atrophy, and neuropathy",
            "description": "Spastic paraplegia, optic atrophy, and neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060491"
    ],
    "unlinked_id_list": []
}