{
    "disease_id": "DOID:0070428",
    "recommended_name": {
        "id": "DOID:0070428",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070428",
        "name": "combined oxidative phosphorylation deficiency 55",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070428",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070428",
            "name": "COXPD55",
            "description": ""
        },
        {
            "id": "MONDO:0859228",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859228",
            "name": "combined oxidative phosphorylation deficiency 55",
            "description": ""
        },
        {
            "id": "MIM:619743",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619743",
            "name": "Combined oxidative phosphorylation deficiency 55",
            "description": "Combined oxidative phosphorylation deficiency 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070428"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070428",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070428",
            "categories": []
        },
        {
            "id": "MONDO:0859228",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859228",
            "categories": []
        },
        {
            "id": "MIM:619743",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619743",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7G4-1",
            "uniprot_ac": "A0ACD6B7G4",
            "uniprot_id": "A0ACD6B7G4_DANRE",
            "refseq_ac": "XP_005170579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polrmt",
                    "type": "recommended"
                },
                {
                    "name": "polrmt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7G4-1",
            "evidence": [
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BKF1-1",
            "uniprot_ac": "Q8BKF1",
            "uniprot_id": "RPOM_MOUSE",
            "refseq_ac": "NP_766139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MtRPOL",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA-directed RNA polymerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polrmt",
                    "type": "recommended"
                },
                {
                    "name": "1110018N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932416K13",
                    "type": "synonym"
                },
                {
                    "name": "Polrmt",
                    "type": "synonym"
                },
                {
                    "name": "mtRPOL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BKF1-1",
            "evidence": [
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00411-1",
            "uniprot_ac": "O00411",
            "uniprot_id": "RPOM_HUMAN",
            "refseq_ac": "NP_005026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial isoform 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "MtRPOL",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) mitochondrial (DNA directed)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLRMT",
                    "type": "recommended"
                },
                {
                    "name": "APOLMT",
                    "type": "synonym"
                },
                {
                    "name": "COXPD55",
                    "type": "synonym"
                },
                {
                    "name": "MTRNAP",
                    "type": "synonym"
                },
                {
                    "name": "MTRPOL",
                    "type": "synonym"
                },
                {
                    "name": "POLRMT",
                    "type": "synonym"
                },
                {
                    "name": "h-mtRPOL",
                    "type": "synonym"
                }
            ],
            "record_id": "O00411-1",
            "evidence": [
                {
                    "id": "619743",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619743"
                },
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13433-1",
            "uniprot_ac": "P13433",
            "uniprot_id": "RPOM_YEAST",
            "refseq_ac": "NP_116617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPO41",
                    "type": "recommended"
                },
                {
                    "name": "RPO41",
                    "type": "synonym"
                }
            ],
            "record_id": "P13433-1",
            "evidence": [
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y8F7-1",
            "uniprot_ac": "A0A8I5Y8F7",
            "uniprot_id": "A0A8I5Y8F7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polrmt",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5Y8F7-1",
            "evidence": [
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPW4-1",
            "uniprot_ac": "Q9VPW4",
            "uniprot_id": "Q9VPW4_DROME",
            "refseq_ac": "NP_001259853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "CG4644-PB",
                    "type": "synonym"
                },
                {
                    "name": "PolrMT-PB",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase mitochondrial, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNA polymerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolrMT",
                    "type": "recommended"
                },
                {
                    "name": "CG4644",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4644",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4644",
                    "type": "synonym"
                },
                {
                    "name": "POLRMT",
                    "type": "synonym"
                },
                {
                    "name": "PolrMT",
                    "type": "synonym"
                },
                {
                    "name": "RPO41",
                    "type": "synonym"
                },
                {
                    "name": "mt RNA pol",
                    "type": "synonym"
                },
                {
                    "name": "mtRNA-pol",
                    "type": "synonym"
                },
                {
                    "name": "mtRNAPol",
                    "type": "synonym"
                },
                {
                    "name": "mtRNAP",
                    "type": "synonym"
                },
                {
                    "name": "mtRNApol",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPW4-1",
            "evidence": [
                {
                    "id": "0070428",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070428"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070428"
}