{
    "disease_id": "DOID:0050944",
    "recommended_name": {
        "id": "DOID:0050944",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050944",
        "name": "spastic ataxia 5",
        "description": "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "spastic ataxia 5",
            "description": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated."
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "AFG3L2 autosomal recessive spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "AFG3L2-related spastic ataxia-neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "SPAX5",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "autosomal recessive spastic ataxia caused by mutation in AFG3L2",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "autosomal recessive spastic ataxia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "spastic ataxia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013776",
            "name": "spastic ataxia 5, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:614487",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614487",
            "name": "Spastic ataxia 5, autosomal recessive",
            "description": "Spastic ataxia 5, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050944"
    ],
    "unlinked_id_list": []
}