{
    "disease_id": "DOID:0080126",
    "recommended_name": {
        "id": "DOID:0080126",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0080126",
            "name": "OHAHA SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0080126",
            "resource": "Disease Ontology",
            "url": "https://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": "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": "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": "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 infantile with sensory neuropathy",
            "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": [],
    "crossref": [
        {
            "id": "DOID:0080126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080126",
            "categories": []
        },
        {
            "id": "MONDO:0010060",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010060",
            "categories": []
        },
        {
            "id": "MIM:271245",
            "database": "MIM",
            "url": "https://www.omim.org/entry/271245",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ICC1-1",
            "uniprot_ac": "A0A0R4ICC1",
            "uniprot_id": "A0A0R4ICC1_DANRE",
            "refseq_ac": "NP_001264527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "progressive external ophthalmoplegia 1",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "twinkle protein, mitochondrial-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "twnk",
                    "type": "recommended"
                },
                {
                    "name": "fi04d09",
                    "type": "synonym"
                },
                {
                    "name": "peo1",
                    "type": "synonym"
                },
                {
                    "name": "twnk",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi04d09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ICC1-1",
            "evidence": [
                {
                    "id": "0080126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIW5-1",
            "uniprot_ac": "Q8CIW5",
            "uniprot_id": "PEO1_MOUSE",
            "refseq_ac": "NP_001335188",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Progressive external ophthalmoplegia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "T7 gp4-like protein with intramitochondrial nucleoid localization",
                    "type": "synonym"
                },
                {
                    "name": "T7-like mitochondrial DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "progressive external ophthalmoplegia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative T7-like mitochodrial DNA helicase twinky",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "twinkle protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twnk",
                    "type": "recommended"
                },
                {
                    "name": "D19Ertd626e",
                    "type": "synonym"
                },
                {
                    "name": "PEO",
                    "type": "synonym"
                },
                {
                    "name": "Peo1",
                    "type": "synonym"
                },
                {
                    "name": "Twinl",
                    "type": "synonym"
                },
                {
                    "name": "Twnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIW5-1",
            "evidence": [
                {
                    "id": "0080126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RR1-1",
            "uniprot_ac": "Q96RR1",
            "uniprot_id": "PEO1_HUMAN",
            "refseq_ac": "NP_001157284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Progressive external ophthalmoplegia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "T7 gp4-like protein with intramitochondrial nucleoid localization",
                    "type": "synonym"
                },
                {
                    "name": "T7 helicase-related protein with intramitochondrial nucleoid localization",
                    "type": "synonym"
                },
                {
                    "name": "T7-like mitochondrial DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ataxin 8",
                    "type": "synonym"
                },
                {
                    "name": "progressive external ophthalmoplegia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase isoform B",
                    "type": "synonym"
                },
                {
                    "name": "twinkle protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TWNK",
                    "type": "recommended"
                },
                {
                    "name": "ATXN8",
                    "type": "synonym"
                },
                {
                    "name": "C10orf2",
                    "type": "synonym"
                },
                {
                    "name": "IOSCA",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS7",
                    "type": "synonym"
                },
                {
                    "name": "PEO1",
                    "type": "synonym"
                },
                {
                    "name": "PEOA3",
                    "type": "synonym"
                },
                {
                    "name": "PEO",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS5",
                    "type": "synonym"
                },
                {
                    "name": "SANDO",
                    "type": "synonym"
                },
                {
                    "name": "SCA8",
                    "type": "synonym"
                },
                {
                    "name": "TWINL",
                    "type": "synonym"
                },
                {
                    "name": "TWNK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RR1-1",
            "evidence": [
                {
                    "id": "271245",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/271245"
                },
                {
                    "id": "0080126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LFN5-1",
            "uniprot_ac": "A0ABK0LFN5",
            "uniprot_id": "A0ABK0LFN5_RAT",
            "refseq_ac": "XP_008758651",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "T7 gp4-like protein with intramitochondrial nucleoid localization",
                    "type": "synonym"
                },
                {
                    "name": "T7-like mitochondrial DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twnk",
                    "type": "recommended"
                },
                {
                    "name": "Peo1",
                    "type": "synonym"
                },
                {
                    "name": "Twnk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LFN5-1",
            "evidence": [
                {
                    "id": "0080126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL76-1",
            "uniprot_ac": "Q9VL76",
            "uniprot_id": "PEO1_DROME",
            "refseq_ac": "NP_609318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial DNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CG5924-PA",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "d-mtDNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA-helicase-PA",
                    "type": "synonym"
                },
                {
                    "name": "twinkle helicase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtDNA-helicase",
                    "type": "recommended"
                },
                {
                    "name": "CG5924",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5924",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "mtDNA-helicase",
                    "type": "synonym"
                },
                {
                    "name": "twk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL76-1",
            "evidence": [
                {
                    "id": "0080126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080126"
}