{
    "disease_id": "DOID:0112111",
    "recommended_name": {
        "id": "DOID:0112111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112111",
        "name": "combined oxidative phosphorylation deficiency 50",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112111",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112111",
            "name": "COXPD50",
            "description": ""
        },
        {
            "id": "MONDO:0033570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033570",
            "name": "combined oxidative phosphorylation deficiency 50",
            "description": ""
        },
        {
            "id": "MONDO:0033570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033570",
            "name": "COXPD50",
            "description": ""
        },
        {
            "id": "MIM:619025",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619025",
            "name": "Combined oxidative phosphorylation deficiency 50",
            "description": "Combined oxidative phosphorylation deficiency 50"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112111"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112111",
            "categories": []
        },
        {
            "id": "MONDO:0033570",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033570",
            "categories": []
        },
        {
            "id": "MIM:619025",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619025",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D125-1",
            "uniprot_ac": "Q9D125",
            "uniprot_id": "RT25_MOUSE",
            "refseq_ac": "NP_079854",
            "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 mS25",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S25, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "S25mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps25",
                    "type": "recommended"
                },
                {
                    "name": "2810429N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps25",
                    "type": "synonym"
                },
                {
                    "name": "Rpms25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D125-1",
            "evidence": [
                {
                    "id": "0112111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82663-1",
            "uniprot_ac": "P82663",
            "uniprot_id": "RT25_HUMAN",
            "refseq_ac": "NP_071942",
            "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 mS25",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S25, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "S25mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 28S ribosomal protein S25",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS25",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS25",
                    "type": "recommended"
                },
                {
                    "name": "COXPD50",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "MRPS25",
                    "type": "synonym"
                },
                {
                    "name": "RPMS25",
                    "type": "synonym"
                },
                {
                    "name": "mS25",
                    "type": "synonym"
                }
            ],
            "record_id": "P82663-1",
            "evidence": [
                {
                    "id": "619025",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619025"
                },
                {
                    "id": "0112111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QR80-1",
            "uniprot_ac": "Q4QR80",
            "uniprot_id": "RT25_RAT",
            "refseq_ac": "NP_001020579",
            "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 mS25",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S25, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "S25mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps25",
                    "type": "recommended"
                },
                {
                    "name": "Mrps25",
                    "type": "synonym"
                },
                {
                    "name": "Shd10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QR80-1",
            "evidence": [
                {
                    "id": "0112111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY28-1",
            "uniprot_ac": "Q9VY28",
            "uniprot_id": "RT25_DROME",
            "refseq_ac": "NP_511153",
            "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 mS25",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S25, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG14413-PA",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "S25mt",
                    "type": "synonym"
                },
                {
                    "name": "mRpS25-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS25",
                    "type": "recommended"
                },
                {
                    "name": "25mRps",
                    "type": "synonym"
                },
                {
                    "name": "CG14413",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14413",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S25",
                    "type": "synonym"
                },
                {
                    "name": "MrpS25",
                    "type": "synonym"
                },
                {
                    "name": "mRpS25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY28-1",
            "evidence": [
                {
                    "id": "0112111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112111"
}