{
    "disease_id": "DOID:0112113",
    "recommended_name": {
        "id": "DOID:0112113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112113",
        "name": "combined oxidative phosphorylation deficiency 45",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112113",
            "name": "COXPD45",
            "description": ""
        },
        {
            "id": "MONDO:0033533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033533",
            "name": "combined oxidative phosphorylation deficiency 45",
            "description": ""
        },
        {
            "id": "MONDO:0033533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033533",
            "name": "COXPD45",
            "description": ""
        },
        {
            "id": "MIM:618951",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618951",
            "name": "Combined oxidative phosphorylation deficiency 45",
            "description": "Combined oxidative phosphorylation deficiency 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112113",
            "categories": []
        },
        {
            "id": "MONDO:0033533",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033533",
            "categories": []
        },
        {
            "id": "MIM:618951",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618951",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WHQ5-1",
            "uniprot_ac": "X1WHQ5",
            "uniprot_id": "X1WHQ5_DANRE",
            "refseq_ac": "XP_009298024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein bL12m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein bL12m isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrpl12",
                    "type": "recommended"
                },
                {
                    "name": "im:6893415",
                    "type": "synonym"
                },
                {
                    "name": "mrpl12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112445",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WHQ5-1",
            "evidence": [
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB15-1",
            "uniprot_ac": "Q9DB15",
            "uniprot_id": "RM12_MOUSE",
            "refseq_ac": "NP_081480",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein bL12m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L12mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L12",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein bL12m precursor",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein bL12m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl12",
                    "type": "recommended"
                },
                {
                    "name": "0610034O11Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500031N16Rik",
                    "type": "synonym"
                },
                {
                    "name": "L12mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L12",
                    "type": "synonym"
                },
                {
                    "name": "Mrpl12",
                    "type": "synonym"
                },
                {
                    "name": "Rpml12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB15-1",
            "evidence": [
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52815-1",
            "uniprot_ac": "P52815",
            "uniprot_id": "RM12_HUMAN",
            "refseq_ac": "NP_002940",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein bL12m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "5c5-2",
                    "type": "synonym"
                },
                {
                    "name": "L12mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L12",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein bL12m",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial large ribosomal subunit protein bL12m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPL12",
                    "type": "recommended"
                },
                {
                    "name": "5c5-2",
                    "type": "synonym"
                },
                {
                    "name": "L12mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L31/34",
                    "type": "synonym"
                },
                {
                    "name": "MRPL12",
                    "type": "synonym"
                },
                {
                    "name": "MRPL7/L12",
                    "type": "synonym"
                },
                {
                    "name": "MRPL7",
                    "type": "synonym"
                },
                {
                    "name": "RPML12",
                    "type": "synonym"
                },
                {
                    "name": "bL12m",
                    "type": "synonym"
                }
            ],
            "record_id": "P52815-1",
            "evidence": [
                {
                    "id": "618951",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618951"
                },
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53163-1",
            "uniprot_ac": "P53163",
            "uniprot_id": "MNP1_YEAST",
            "refseq_ac": "NP_011447",
            "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": "Large ribosomal subunit protein bL12m",
                    "type": "recommended"
                },
                {
                    "name": "54S ribosomal protein L12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial-nucleoid protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 54S ribosomal protein bL12m MNP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNP1",
                    "type": "recommended"
                },
                {
                    "name": "MNP1",
                    "type": "synonym"
                },
                {
                    "name": "MRPL12",
                    "type": "synonym"
                },
                {
                    "name": "bL12m",
                    "type": "synonym"
                }
            ],
            "record_id": "P53163-1",
            "evidence": [
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXF9-1",
            "uniprot_ac": "D3ZXF9",
            "uniprot_id": "D3ZXF9_RAT",
            "refseq_ac": "NP_001025071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein bL12m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein bL12m",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein, mitochondrial, L12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl12",
                    "type": "recommended"
                },
                {
                    "name": "Mrpl12",
                    "type": "synonym"
                },
                {
                    "name": "Rpm12",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXF9-1",
            "evidence": [
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSR5-1",
            "uniprot_ac": "Q9VSR5",
            "uniprot_id": "Q9VSR5_DROME",
            "refseq_ac": "NP_524742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5012-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribosomal protein L12",
                    "type": "synonym"
                },
                {
                    "name": "mRpL12-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein L12",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein L5/L17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein L7/L12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpL12",
                    "type": "recommended"
                },
                {
                    "name": "12A",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE53508",
                    "type": "synonym"
                },
                {
                    "name": "CG5012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5012",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5012",
                    "type": "synonym"
                },
                {
                    "name": "L12",
                    "type": "synonym"
                },
                {
                    "name": "L7/12A",
                    "type": "synonym"
                },
                {
                    "name": "L7/L12",
                    "type": "synonym"
                },
                {
                    "name": "L7",
                    "type": "synonym"
                },
                {
                    "name": "MRPL12",
                    "type": "synonym"
                },
                {
                    "name": "Mrp17",
                    "type": "synonym"
                },
                {
                    "name": "l(3)10534",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j4B2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rL424",
                    "type": "synonym"
                },
                {
                    "name": "mRpL12",
                    "type": "synonym"
                },
                {
                    "name": "mRpL7-L12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSR5-1",
            "evidence": [
                {
                    "id": "0112113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112113"
}