{
    "disease_id": "DOID:0080126",
    "recommended_name": {
        "id": "DOID:0080126",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080126",
        "name": "mitochondrial DNA depletion syndrome 7",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080126",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080126",
            "name": "OHAHA SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0080126",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080126",
            "name": "infantile onset spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
            "description": "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "IOSCA",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "OHAHA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "Ohaha syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "TWNK autosomal recessive degenerative and progressive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "infantile onset spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "mitochondrial DNA depletion syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "MTDPS7",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "SCA8 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "mitochondrial DNA depletion syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia 8",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia 8 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia 8, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia infantile with sensory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia, infantile, with sensory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "name": "spinocerebellar ataxia, infantile-onset",
            "description": ""
        },
        {
            "id": "MIM:271245",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271245",
            "name": "Mitochondrial DNA depletion syndrome 7",
            "description": "Mitochondrial DNA depletion syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080126"
    ],
    "unlinked_id_list": []
}