{
    "disease_id": "DOID:0080126", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "infantile onset spinocerebellar ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "OHAHA syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "mitochondrial DNA depletion syndrome type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "TWNK autosomal recessive degenerative and progressive cerebellar ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia 8, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia, infantile, with sensory neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia 8 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia, infantile-onset"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "SCA8 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "MTDPS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "spinocerebellar ataxia infantile with sensory neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010060", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010060", 
            "name": "IOSCA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080126", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080126", 
            "name": "OHAHA SYNDROME"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080126", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080126", 
            "name": "infantile onset spinocerebellar ataxia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080126", 
        "description": "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080126", 
        "name": "mitochondrial DNA depletion syndrome 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080126#disease-associations", 
            "id": "0080126", 
            "database": "Alliance of Genome Resources"
        }
    ]
}