{
    "disease_id": "DOID:0111611",
    "recommended_name": {
        "id": "DOID:0111611",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111611",
        "name": "autosomal recessive spinocerebellar ataxia 4",
        "description": "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCA24",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCAR4",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCASI",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "spinocerebellar ataxia 24",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "spinocerebellar ataxia with saccadic intrusions",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",
            "description": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances."
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "SCAR4",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "SCASI",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia 24",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia 24 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MIM:607317",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607317",
            "name": "Spinocerebellar ataxia, autosomal recessive 4",
            "description": "Spinocerebellar ataxia, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111611"
    ],
    "unlinked_id_list": []
}