{
    "disease_id": "DOID:0111466",
    "recommended_name": {
        "id": "DOID:0111466",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111466",
        "name": "combined oxidative phosphorylation deficiency 38",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111466",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111466",
            "name": "COXPD38",
            "description": ""
        },
        {
            "id": "MONDO:0032712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032712",
            "name": "combined oxidative phosphorylation deficiency 38",
            "description": ""
        },
        {
            "id": "MONDO:0032712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032712",
            "name": "COXPD38",
            "description": ""
        },
        {
            "id": "MIM:618378",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618378",
            "name": "Combined oxidative phosphorylation deficiency 38",
            "description": "Combined oxidative phosphorylation deficiency 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111466"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111466",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111466",
            "categories": []
        },
        {
            "id": "MONDO:0032712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032712",
            "categories": []
        },
        {
            "id": "MIM:618378",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618378",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR88-1",
            "uniprot_ac": "Q9CR88",
            "uniprot_id": "RT14_MOUSE",
            "refseq_ac": "NP_079750",
            "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 uS14m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S14, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S14",
                    "type": "synonym"
                },
                {
                    "name": "S14mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14m isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps14",
                    "type": "recommended"
                },
                {
                    "name": "1810032L21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps14",
                    "type": "synonym"
                },
                {
                    "name": "Rpms14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR88-1",
            "evidence": [
                {
                    "id": "0111466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60783-1",
            "uniprot_ac": "O60783",
            "uniprot_id": "RT14_HUMAN",
            "refseq_ac": "NP_071383",
            "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 uS14m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S14, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S14",
                    "type": "synonym"
                },
                {
                    "name": "S14mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 28S ribosomal protein S14",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein uS14m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS14",
                    "type": "recommended"
                },
                {
                    "name": "COXPD38",
                    "type": "synonym"
                },
                {
                    "name": "DJ262D12.2",
                    "type": "synonym"
                },
                {
                    "name": "HSMRPS14",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S14",
                    "type": "synonym"
                },
                {
                    "name": "MRPS14",
                    "type": "synonym"
                },
                {
                    "name": "S14mt",
                    "type": "synonym"
                },
                {
                    "name": "uS14m",
                    "type": "synonym"
                }
            ],
            "record_id": "O60783-1",
            "evidence": [
                {
                    "id": "618378",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618378"
                },
                {
                    "id": "0111466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10663-1",
            "uniprot_ac": "P10663",
            "uniprot_id": "RT02_YEAST",
            "refseq_ac": "NP_015492",
            "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": "Small ribosomal subunit protein uS14m",
                    "type": "recommended"
                },
                {
                    "name": "37S ribosomal protein MRP2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein uS14m MRP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRP2",
                    "type": "recommended"
                },
                {
                    "name": "MRP2",
                    "type": "synonym"
                },
                {
                    "name": "P9325.7",
                    "type": "synonym"
                },
                {
                    "name": "uS14m",
                    "type": "synonym"
                }
            ],
            "record_id": "P10663-1",
            "evidence": [
                {
                    "id": "0111466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LGB8-1",
            "uniprot_ac": "A0ABK0LGB8",
            "uniprot_id": "A0ABK0LGB8_RAT",
            "refseq_ac": "XP_006250160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "28S ribosomal protein S14, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "small ribosomal subunit protein uS14m isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps14",
                    "type": "recommended"
                },
                {
                    "name": "Mrps14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LGB8-1",
            "evidence": [
                {
                    "id": "0111466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWI3-1",
            "uniprot_ac": "Q9VWI3",
            "uniprot_id": "Q9VWI3_DROME",
            "refseq_ac": "NP_001285438",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "28S ribosomal protein S14, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG32531-PB",
                    "type": "synonym"
                },
                {
                    "name": "mRpS14-PB",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S14, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS14",
                    "type": "recommended"
                },
                {
                    "name": "CG12211",
                    "type": "synonym"
                },
                {
                    "name": "CG32531",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32531",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32531",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S14",
                    "type": "synonym"
                },
                {
                    "name": "MrpS14",
                    "type": "synonym"
                },
                {
                    "name": "S14",
                    "type": "synonym"
                },
                {
                    "name": "cg12211",
                    "type": "synonym"
                },
                {
                    "name": "mRPS14",
                    "type": "synonym"
                },
                {
                    "name": "mRpS14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWI3-1",
            "evidence": [
                {
                    "id": "0111466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111466"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111466"
}