{
    "disease_id": "DOID:0051029",
    "recommended_name": {
        "id": "DOID:0051029",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051029",
        "name": "mitochondrial DNA depletion syndrome-21",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0976132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976132",
            "name": "mitochondrial dna depletion syndrome 21",
            "description": ""
        },
        {
            "id": "MIM:621071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621071",
            "name": "Mitochondrial DNA depletion syndrome 21",
            "description": "Mitochondrial DNA depletion syndrome 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051029"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051029",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051029",
            "categories": []
        },
        {
            "id": "MONDO:0976132",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976132",
            "categories": []
        },
        {
            "id": "MIM:621071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U008-1",
            "uniprot_ac": "A0AB32U008",
            "uniprot_id": "A0AB32U008_DANRE",
            "refseq_ac": "XP_068079002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "guanylate kinase 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "guk1b",
                    "type": "recommended"
                },
                {
                    "name": "guk1b",
                    "type": "synonym"
                },
                {
                    "name": "guk1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73128",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73217",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U008-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8RJH6-1",
            "uniprot_ac": "A0A2R8RJH6",
            "uniprot_id": "A0A2R8RJH6_DANRE",
            "refseq_ac": "NP_001303825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "guanylate kinase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "guk1a",
                    "type": "recommended"
                },
                {
                    "name": "guk1a",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb295",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86776",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RJH6-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64520-1",
            "uniprot_ac": "Q64520",
            "uniprot_id": "KGUA_MOUSE",
            "refseq_ac": "NP_032219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "guanylate kinase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guk1",
                    "type": "recommended"
                },
                {
                    "name": "Gmk",
                    "type": "synonym"
                },
                {
                    "name": "Guk-1",
                    "type": "synonym"
                },
                {
                    "name": "Guk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64520-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16774-1",
            "uniprot_ac": "Q16774",
            "uniprot_id": "KGUA_HUMAN",
            "refseq_ac": "NP_000849",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "ATP:GMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "guanylate kinase isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUK1",
                    "type": "recommended"
                },
                {
                    "name": "GMK",
                    "type": "synonym"
                },
                {
                    "name": "GMPK",
                    "type": "synonym"
                },
                {
                    "name": "GUK1",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16774-1",
            "evidence": [
                {
                    "id": "621071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621071"
                },
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15454-1",
            "uniprot_ac": "P15454",
            "uniprot_id": "KGUA_YEAST",
            "refseq_ac": "NP_010742",
            "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": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "guanylate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUK1",
                    "type": "recommended"
                },
                {
                    "name": "BRA3",
                    "type": "synonym"
                },
                {
                    "name": "D9461.39",
                    "type": "synonym"
                },
                {
                    "name": "GUK1",
                    "type": "synonym"
                },
                {
                    "name": "PUR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P15454-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZT32-1",
            "uniprot_ac": "A0A8I5ZT32",
            "uniprot_id": "A0A8I5ZT32_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guk1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZT32-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTB3-1",
            "uniprot_ac": "Q9VTB3",
            "uniprot_id": "Q9VTB3_DROME",
            "refseq_ac": "NP_648408",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.8",
                    "type": "synonym"
                },
                {
                    "name": "CG11811-PA",
                    "type": "synonym"
                },
                {
                    "name": "GMP kinase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oya",
                    "type": "recommended"
                },
                {
                    "name": "CG11811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11811",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTB3-1",
            "evidence": [
                {
                    "id": "0051029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051029"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051029"
}