{
    "disease_id": "DOID:0070329",
    "recommended_name": {
        "id": "DOID:0070329",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070329",
        "name": "mitochondrial DNA depletion syndrome",
        "description": "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs."
    },
    "synonyms": [
        {
            "id": "DOID:0070329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070329",
            "name": "mtDNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "MTDPS1",
            "description": ""
        },
        {
            "id": "MONDO:0011283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
            "description": ""
        },
        {
            "id": "MIM:603041",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603041",
            "name": "Mitochondrial DNA depletion syndrome 1, MNGIE type",
            "description": "Mitochondrial DNA depletion syndrome 1, MNGIE type"
        }
    ],
    "children": [
        {
            "id": "DOID:0051029",
            "label": "mitochondrial DNA depletion syndrome-21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070446",
            "label": "mitochondrial DNA depletion syndrome 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070447",
            "label": "mitochondrial DNA depletion syndrome 16B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070448",
            "label": "mitochondrial DNA depletion syndrome 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070449",
            "label": "mitochondrial DNA depletion syndrome 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070450",
            "label": "mitochondrial DNA depletion syndrome 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070451",
            "label": "mitochondrial DNA depletion syndrome 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070750",
            "label": "mitochondrial myopathy and ataxia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080119",
            "label": "mitochondrial DNA depletion syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080120",
            "label": "mitochondrial DNA depletion syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080121",
            "label": "mitochondrial DNA depletion syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080122",
            "label": "Alpers-Huttenlocher syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080123",
            "label": "mitochondrial DNA depletion syndrome 4b",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080124",
            "label": "mitochondrial DNA depletion syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080125",
            "label": "mitochondrial DNA depletion syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080126",
            "label": "mitochondrial DNA depletion syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080127",
            "label": "mitochondrial DNA depletion syndrome 8a",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080128",
            "label": "mitochondrial DNA depletion syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080129",
            "label": "mitochondrial DNA depletion syndrome 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080130",
            "label": "mitochondrial DNA depletion syndrome 12a",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080131",
            "label": "mitochondrial DNA depletion syndrome 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080132",
            "label": "Sengers syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080335",
            "label": "mitochondrial DNA depletion syndrome 12b",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080336",
            "label": "mitochondrial DNA depletion syndrome 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080337",
            "label": "mitochondrial DNA depletion syndrome 15",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070447",
        "DOID:0080121",
        "DOID:0070449",
        "DOID:0080336",
        "DOID:0051029",
        "DOID:0080130",
        "DOID:0080126",
        "DOID:0080125",
        "DOID:0070446",
        "DOID:0070750",
        "DOID:0080128",
        "DOID:0080120",
        "DOID:0070329",
        "DOID:0080335",
        "DOID:0070451",
        "DOID:0080122",
        "DOID:0080131",
        "DOID:0080123",
        "DOID:0070450",
        "DOID:0080132",
        "DOID:0080124",
        "DOID:0080127",
        "DOID:0080337",
        "DOID:0080129",
        "DOID:0080119",
        "DOID:0070448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070329",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070329",
            "categories": []
        },
        {
            "id": "MONDO:0011283",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011283",
            "categories": []
        },
        {
            "id": "MIM:603041",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603041",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TZ51-1",
            "uniprot_ac": "Q5TZ51",
            "uniprot_id": "MPV17_DANRE",
            "refseq_ac": "NP_957459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 transgene, murine homolog, glomerulosclerosis",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "transparent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpv17",
                    "type": "recommended"
                },
                {
                    "name": "mpv17",
                    "type": "synonym"
                },
                {
                    "name": "roy",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63573",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TZ51-1",
            "evidence": [
                {
                    "id": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "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": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "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": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19258-1",
            "uniprot_ac": "P19258",
            "uniprot_id": "MPV17_MOUSE",
            "refseq_ac": "NP_001281253",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv-17",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "Tg.Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "P19258-1",
            "evidence": [
                {
                    "id": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZD8-1",
            "uniprot_ac": "Q9QZD8",
            "uniprot_id": "DIC_MOUSE",
            "refseq_ac": "NP_038798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial dicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "DIC",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 10",
                    "type": "synonym"
                },
                {
                    "name": "adenine nucleotide translocator), member 10",
                    "type": "synonym"
                },
                {
                    "name": "dicarboxylate ion carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dicarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a10",
                    "type": "recommended"
                },
                {
                    "name": "Dic",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZD8-1",
            "evidence": [
                {
                    "id": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19971-1",
            "uniprot_ac": "P19971",
            "uniprot_id": "TYPH_HUMAN",
            "refseq_ac": "NP_001107227",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "Gliostatin",
                    "type": "synonym"
                },
                {
                    "name": "PD-ECGF",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived endothelial cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TdRPase",
                    "type": "synonym"
                },
                {
                    "name": "gliostatin",
                    "type": "synonym"
                },
                {
                    "name": "tdRPase",
                    "type": "synonym"
                },
                {
                    "name": "thymidine phosphorylase isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYMP",
                    "type": "recommended"
                },
                {
                    "name": "ECGF1",
                    "type": "synonym"
                },
                {
                    "name": "ECGF",
                    "type": "synonym"
                },
                {
                    "name": "MEDPS1",
                    "type": "synonym"
                },
                {
                    "name": "MNGIE",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS1",
                    "type": "synonym"
                },
                {
                    "name": "PDECGF",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TYMP",
                    "type": "synonym"
                },
                {
                    "name": "hPD-ECGF",
                    "type": "synonym"
                }
            ],
            "record_id": "P19971-1",
            "evidence": [
                {
                    "id": "603041",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06143-1",
            "uniprot_ac": "Q06143",
            "uniprot_id": "DIC1_YEAST",
            "refseq_ac": "NP_013452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial dicarboxylate transporter",
                    "type": "recommended"
                },
                {
                    "name": "DTP",
                    "type": "synonym"
                },
                {
                    "name": "Dic1p",
                    "type": "synonym"
                },
                {
                    "name": "Dicarboxylate carrier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIC1",
                    "type": "recommended"
                },
                {
                    "name": "DIC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06143-1",
            "evidence": [
                {
                    "id": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06563-1",
            "uniprot_ac": "Q06563",
            "uniprot_id": "SYM1_YEAST",
            "refseq_ac": "NP_013352",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SYM1",
                    "type": "recommended"
                },
                {
                    "name": "Stress-inducible yeast MPV17 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ethanol metabolism protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYM1",
                    "type": "recommended"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06563-1",
            "evidence": [
                {
                    "id": "0070329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK62-1",
            "uniprot_ac": "Q5BK62",
            "uniprot_id": "MPV17_RAT",
            "refseq_ac": "NP_001091710",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17 transgene, kidney disease mutant-like",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17l",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK62-1",
            "evidence": [
                {
                    "id": "0070329",
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                }
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                }
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                }
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                }
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        }
    ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070329"
}