{
    "disease_id": "DOID:0111497",
    "recommended_name": {
        "id": "DOID:0111497",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111497",
        "name": "combined oxidative phosphorylation deficiency 34",
        "description": "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111497",
            "name": "COXPD34",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural deafness due to COXPD",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural hearing loss due to COXPD",
            "description": ""
        },
        {
            "id": "DOID:0111497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111497",
            "name": "syndromic sensorineural deafness due to combined oxidative phosphorylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "combined oxidative phosphorylation deficiency 34",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "combined oxidative phosphorylation deficiency 34",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "syndromic sensorineural deafness due to COXPD",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "syndromic sensorineural deafness due to combined oxidative phosphorylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "syndromic sensorineural hearing loss due to COXPD",
            "description": ""
        },
        {
            "id": "MONDO:0054741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "name": "COXPD34",
            "description": ""
        },
        {
            "id": "MIM:617872",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617872",
            "name": "Combined oxidative phosphorylation deficiency 34",
            "description": "Combined oxidative phosphorylation deficiency 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111497"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111497",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111497",
            "categories": []
        },
        {
            "id": "MONDO:0054741",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054741",
            "categories": []
        },
        {
            "id": "MIM:617872",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617872",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q498Z6-1",
            "uniprot_ac": "Q498Z6",
            "uniprot_id": "RT07_DANRE",
            "refseq_ac": "NP_001028768",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m precursor",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrps7",
                    "type": "recommended"
                },
                {
                    "name": "mrps7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110673",
                    "type": "synonym"
                }
            ],
            "record_id": "Q498Z6-1",
            "evidence": [
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X85-1",
            "uniprot_ac": "Q80X85",
            "uniprot_id": "RT07_MOUSE",
            "refseq_ac": "NP_079581",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein, mitochondrial, S7",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m precursor",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps7",
                    "type": "recommended"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "Mrps7",
                    "type": "synonym"
                },
                {
                    "name": "Rpms7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X85-1",
            "evidence": [
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2R9-1",
            "uniprot_ac": "Q9Y2R9",
            "uniprot_id": "RT07_HUMAN",
            "refseq_ac": "NP_057055",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "30S ribosomal protein S7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "bMRP-27a",
                    "type": "synonym"
                },
                {
                    "name": "bMRP27a",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein uS7m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS7",
                    "type": "recommended"
                },
                {
                    "name": "COXPD34",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S",
                    "type": "synonym"
                },
                {
                    "name": "MRPS7",
                    "type": "synonym"
                },
                {
                    "name": "RP-S7",
                    "type": "synonym"
                },
                {
                    "name": "RPMS7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "bMRP27a",
                    "type": "synonym"
                },
                {
                    "name": "uS7m",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2R9-1",
            "evidence": [
                {
                    "id": "617872",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617872"
                },
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47150-1",
            "uniprot_ac": "P47150",
            "uniprot_id": "RT07_YEAST",
            "refseq_ac": "NP_012647",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "37S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein uS7m RSM7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSM7",
                    "type": "recommended"
                },
                {
                    "name": "J2020",
                    "type": "synonym"
                },
                {
                    "name": "RSM7",
                    "type": "synonym"
                },
                {
                    "name": "uS7m",
                    "type": "synonym"
                }
            ],
            "record_id": "P47150-1",
            "evidence": [
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0K8-1",
            "uniprot_ac": "Q5I0K8",
            "uniprot_id": "RT07_RAT",
            "refseq_ac": "NP_001093941",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "mitchondrial ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS7m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps7",
                    "type": "recommended"
                },
                {
                    "name": "Mrps7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0K8-1",
            "evidence": [
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKX4-1",
            "uniprot_ac": "Q9VKX4",
            "uniprot_id": "RT07_DROME",
            "refseq_ac": "NP_001260339",
            "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 uS7m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG5108-PB",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "S7mt",
                    "type": "synonym"
                },
                {
                    "name": "mRpS7-PB",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S7, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS7",
                    "type": "recommended"
                },
                {
                    "name": "CG5108",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5108",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5108",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S7",
                    "type": "synonym"
                },
                {
                    "name": "RpS7",
                    "type": "synonym"
                },
                {
                    "name": "mRPS7",
                    "type": "synonym"
                },
                {
                    "name": "mRpS7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKX4-1",
            "evidence": [
                {
                    "id": "0111497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111497"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111497"
}