{
    "disease_id": "DOID:0112115",
    "recommended_name": {
        "id": "DOID:0112115",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112115",
        "name": "combined oxidative phosphorylation deficiency 46",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0112115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112115",
            "name": "COXPD46",
            "description": ""
        },
        {
            "id": "MONDO:0033534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033534",
            "name": "combined oxidative phosphorylation deficiency 46",
            "description": ""
        },
        {
            "id": "MONDO:0033534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033534",
            "name": "combined oxidative phosphorylation defiency 46",
            "description": ""
        },
        {
            "id": "MONDO:0033534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033534",
            "name": "COXPD46",
            "description": ""
        },
        {
            "id": "MIM:618952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618952",
            "name": "Combined oxidative phosphorylation deficiency 46",
            "description": "Combined oxidative phosphorylation deficiency 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112115",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112115",
            "categories": []
        },
        {
            "id": "MONDO:0033534",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033534",
            "categories": []
        },
        {
            "id": "MIM:618952",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618952",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QDB6-1",
            "uniprot_ac": "E9QDB6",
            "uniprot_id": "E9QDB6_DANRE",
            "refseq_ac": "XP_005157745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS23",
                    "type": "recommended"
                },
                {
                    "name": "small ribosomal subunit protein mS23 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrps23",
                    "type": "recommended"
                },
                {
                    "name": "mrps23",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa18c12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100967",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QDB6-1",
            "evidence": [
                {
                    "id": "0112115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE22-1",
            "uniprot_ac": "Q8VE22",
            "uniprot_id": "RT23_MOUSE",
            "refseq_ac": "NP_001278199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS23",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S23, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S23",
                    "type": "synonym"
                },
                {
                    "name": "S23mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS23 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps23",
                    "type": "recommended"
                },
                {
                    "name": "D11Bwg1153e",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S23",
                    "type": "synonym"
                },
                {
                    "name": "Mrps23",
                    "type": "synonym"
                },
                {
                    "name": "Rpms23",
                    "type": "synonym"
                },
                {
                    "name": "S23mt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE22-1",
            "evidence": [
                {
                    "id": "0112115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3D9-1",
            "uniprot_ac": "Q9Y3D9",
            "uniprot_id": "RT23_HUMAN",
            "refseq_ac": "NP_057154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS23",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S23, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S23",
                    "type": "synonym"
                },
                {
                    "name": "S23mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS23",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS23",
                    "type": "recommended"
                },
                {
                    "name": "CGI-138",
                    "type": "synonym"
                },
                {
                    "name": "COXPD46",
                    "type": "synonym"
                },
                {
                    "name": "HSPC329",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S23",
                    "type": "synonym"
                },
                {
                    "name": "MRPS23",
                    "type": "synonym"
                },
                {
                    "name": "mS23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3D9-1",
            "evidence": [
                {
                    "id": "618952",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618952"
                },
                {
                    "id": "0112115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIN7-1",
            "uniprot_ac": "D3ZIN7",
            "uniprot_id": "D3ZIN7_RAT",
            "refseq_ac": "NP_001101759",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS23",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S23, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps23",
                    "type": "recommended"
                },
                {
                    "name": "Mrps23",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIN7-1",
            "evidence": [
                {
                    "id": "0112115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP62-1",
            "uniprot_ac": "Q8IP62",
            "uniprot_id": "Q8IP62_DROME",
            "refseq_ac": "NP_723847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS23",
                    "type": "recommended"
                },
                {
                    "name": "CG31842-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH0272",
                    "type": "synonym"
                },
                {
                    "name": "mRpS23-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS23",
                    "type": "recommended"
                },
                {
                    "name": "CG31842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31842",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH0272",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 0272",
                    "type": "synonym"
                },
                {
                    "name": "mRpS23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP62-1",
            "evidence": [
                {
                    "id": "0112115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112115"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112115"
}