{
    "disease_id": "DOID:0050941",
    "recommended_name": {
        "id": "DOID:0050941",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050941",
        "name": "spastic ataxia 2",
        "description": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2",
            "description": "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs."
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "KIF1C spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "SPAX2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "SPG58",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "autosomal recessive spastic ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia caused by mutation in KIF1C",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012651",
            "name": "spastic ataxia 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611302",
            "name": "Spastic ataxia 2, autosomal recessive",
            "description": "Spastic ataxia 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050941"
    ],
    "unlinked_id_list": []
}