{
    "disease_id": "DOID:0080120",
    "recommended_name": {
        "id": "DOID:0080120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080120",
        "name": "mitochondrial DNA depletion syndrome 2",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080120",
            "name": "TK2-related mitochondrial DNA depletion syndrome, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome, myopathic form",
            "description": "A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood."
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "thymidine kinase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mtDNA depletion syndrome, myopathic form",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "MTDPS2",
            "description": ""
        },
        {
            "id": "MONDO:0012301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "name": "mitochondrial DNA depletion syndrome 2 (myopathic type)",
            "description": ""
        },
        {
            "id": "MIM:609560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609560",
            "name": "Mitochondrial DNA depletion syndrome 2",
            "description": "Mitochondrial DNA depletion syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080120"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080120",
            "categories": []
        },
        {
            "id": "MONDO:0012301",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012301",
            "categories": []
        },
        {
            "id": "MIM:609560",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609560",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N0Z5-1",
            "uniprot_ac": "A0A8M1N0Z5",
            "uniprot_id": "A0A8M1N0Z5_DANRE",
            "refseq_ac": "NP_001002743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tk2",
                    "type": "recommended"
                },
                {
                    "name": "tk2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100948",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N0Z5-1",
            "evidence": [
                {
                    "id": "0080120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R088-1",
            "uniprot_ac": "Q9R088",
            "uniprot_id": "KITM_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "Mt-TK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tk2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9R088-1",
            "evidence": [
                {
                    "id": "0080120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00142-1",
            "uniprot_ac": "O00142",
            "uniprot_id": "KITM_HUMAN",
            "refseq_ac": "NP_001166114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "Mt-TK",
                    "type": "synonym"
                },
                {
                    "name": "deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial thymidine kinase",
                    "type": "synonym"
                },
                {
                    "name": "mt-TK",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TK2",
                    "type": "recommended"
                },
                {
                    "name": "MTDPS2",
                    "type": "synonym"
                },
                {
                    "name": "MTTK",
                    "type": "synonym"
                },
                {
                    "name": "PEOB3",
                    "type": "synonym"
                },
                {
                    "name": "SCA31",
                    "type": "synonym"
                },
                {
                    "name": "TK2-EXT",
                    "type": "synonym"
                },
                {
                    "name": "TK2",
                    "type": "synonym"
                }
            ],
            "record_id": "O00142-1",
            "evidence": [
                {
                    "id": "609560",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609560"
                },
                {
                    "id": "0080120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGQ2-1",
            "uniprot_ac": "D3ZGQ2",
            "uniprot_id": "D3ZGQ2_RAT",
            "refseq_ac": "NP_001099636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidine kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxyuridine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.21",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "Deoxycytidine kinase TK2",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "thymidine kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tk2",
                    "type": "recommended"
                },
                {
                    "name": "Tk2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGQ2-1",
            "evidence": [
                {
                    "id": "0080120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZT6-1",
            "uniprot_ac": "Q9XZT6",
            "uniprot_id": "DNK_DROME",
            "refseq_ac": "NP_001262722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside kinase",
                    "type": "recommended"
                },
                {
                    "name": "2'-deoxynucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.145",
                    "type": "synonym"
                },
                {
                    "name": "CG5452-PB",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "Dm-dNK",
                    "type": "synonym"
                },
                {
                    "name": "Multispecific deoxynucleoside kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonucleoside kinase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonucleoside",
                    "type": "synonym"
                },
                {
                    "name": "dnk-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnk",
                    "type": "recommended"
                },
                {
                    "name": "CG5452",
                    "type": "synonym"
                },
                {
                    "name": "DM-dNK",
                    "type": "synonym"
                },
                {
                    "name": "DNK",
                    "type": "synonym"
                },
                {
                    "name": "Dm-dNK",
                    "type": "synonym"
                },
                {
                    "name": "DmdNK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5452",
                    "type": "synonym"
                },
                {
                    "name": "dNK",
                    "type": "synonym"
                },
                {
                    "name": "dnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZT6-1",
            "evidence": [
                {
                    "id": "0080120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080120"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080120"
}