{
    "disease_id": "DOID:0080119",
    "recommended_name": {
        "id": "DOID:0080119",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080119",
        "name": "mitochondrial DNA depletion syndrome 1",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080119",
            "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
            "description": ""
        },
        {
            "id": "DOID:0080119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080119",
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related",
            "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_list": [
        "DOID:0080119"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080119",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080119",
            "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": "A0A8M3B8W2-1",
            "uniprot_ac": "A0A8M3B8W2",
            "uniprot_id": "A0A8M3B8W2_DANRE",
            "refseq_ac": "XP_009298457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TdRPase",
                    "type": "synonym"
                },
                {
                    "name": "thymidine phosphorylase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tymp",
                    "type": "recommended"
                },
                {
                    "name": "tymp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B8W2-1",
            "evidence": [
                {
                    "id": "0080119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99N42-1",
            "uniprot_ac": "Q99N42",
            "uniprot_id": "TYPH_MOUSE",
            "refseq_ac": "NP_612175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TdRPase",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell growth factor 1 (platelet-derived)",
                    "type": "synonym"
                },
                {
                    "name": "gliostatin",
                    "type": "synonym"
                },
                {
                    "name": "platelet derived growth factor, endothelial cell",
                    "type": "synonym"
                },
                {
                    "name": "tdRPase",
                    "type": "synonym"
                },
                {
                    "name": "thymidine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tymp",
                    "type": "recommended"
                },
                {
                    "name": "2900072D10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ecgf1",
                    "type": "synonym"
                },
                {
                    "name": "PD-ECGF",
                    "type": "synonym"
                },
                {
                    "name": "PDECGF",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfec",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "Tymp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99N42-1",
            "evidence": [
                {
                    "id": "0080119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080119"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0080119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVR2-1",
            "uniprot_ac": "Q5FVR2",
            "uniprot_id": "TYPH_RAT",
            "refseq_ac": "NP_001012122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine phosphorylase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "TdRPase",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell growth factor 1 (platelet-derived)",
                    "type": "synonym"
                },
                {
                    "name": "tdRPase",
                    "type": "synonym"
                },
                {
                    "name": "thymidine phosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sco2",
                    "type": "recommended"
                },
                {
                    "name": "Tymp",
                    "type": "recommended"
                },
                {
                    "name": "Ecgf1",
                    "type": "synonym"
                },
                {
                    "name": "TP",
                    "type": "synonym"
                },
                {
                    "name": "Tymp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVR2-1",
            "evidence": [
                {
                    "id": "0080119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDU5-1",
            "uniprot_ac": "Q6PDU5",
            "uniprot_id": "BEX3_RAT",
            "refseq_ac": "NP_445853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BEX3",
                    "type": "recommended"
                },
                {
                    "name": "Brain-expressed X-linked protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nerve growth factor receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "brain-expressed X-linked protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nerve growth factor receptor (TNFRSF16) associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nerve growth factor receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p75NTR-associated cell death executor",
                    "type": "synonym"
                },
                {
                    "name": "protein BEX3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein BEX3",
                    "type": "synonym"
                },
                {
                    "name": "rBex3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bex3",
                    "type": "recommended"
                },
                {
                    "name": "Bex3",
                    "type": "synonym"
                },
                {
                    "name": "Nade",
                    "type": "synonym"
                },
                {
                    "name": "Ngfrap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PDU5-1",
            "evidence": [
                {
                    "id": "0080119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080119"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080119"
}