{
    "disease_id": "DOID:0112114",
    "recommended_name": {
        "id": "DOID:0112114",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112114",
        "name": "combined oxidative phosphorylation deficiency 47",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13."
    },
    "synonyms": [
        {
            "id": "DOID:0112114",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112114",
            "name": "COXPD47",
            "description": ""
        },
        {
            "id": "MONDO:0033537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033537",
            "name": "combined oxidative phosphorylation deficiency 47",
            "description": ""
        },
        {
            "id": "MONDO:0033537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033537",
            "name": "COXPD47",
            "description": ""
        },
        {
            "id": "MIM:618958",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618958",
            "name": "Combined oxidative phosphorylation deficiency 47",
            "description": "Combined oxidative phosphorylation deficiency 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112114"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112114",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112114",
            "categories": []
        },
        {
            "id": "MONDO:0033537",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033537",
            "categories": []
        },
        {
            "id": "MIM:618958",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618958",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NAR5-1",
            "uniprot_ac": "A0A8M1NAR5",
            "uniprot_id": "A0A8M1NAR5_DANRE",
            "refseq_ac": "NP_001071258",
            "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 bS1m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS1m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrps28",
                    "type": "recommended"
                },
                {
                    "name": "mrps28",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152965",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NAR5-1",
            "evidence": [
                {
                    "id": "0112114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CY16-1",
            "uniprot_ac": "Q9CY16",
            "uniprot_id": "RT28_MOUSE",
            "refseq_ac": "NP_079710",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein bS1m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S28, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S28",
                    "type": "synonym"
                },
                {
                    "name": "S28mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS1m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps28",
                    "type": "recommended"
                },
                {
                    "name": "1500012D08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CY16-1",
            "evidence": [
                {
                    "id": "0112114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2Q9-1",
            "uniprot_ac": "Q9Y2Q9",
            "uniprot_id": "RT28_HUMAN",
            "refseq_ac": "NP_054737",
            "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 bS1m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S28, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "28S ribosomal protein S35, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S28",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S35",
                    "type": "synonym"
                },
                {
                    "name": "S28mt",
                    "type": "synonym"
                },
                {
                    "name": "S35mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 28S ribosomal protein S35",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein bS1m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS1m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS28",
                    "type": "recommended"
                },
                {
                    "name": "COXPD47",
                    "type": "synonym"
                },
                {
                    "name": "HSPC007",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S28",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S35",
                    "type": "synonym"
                },
                {
                    "name": "MRPS28",
                    "type": "synonym"
                },
                {
                    "name": "MRPS35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2Q9-1",
            "evidence": [
                {
                    "id": "618958",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618958"
                },
                {
                    "id": "0112114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBA5-1",
            "uniprot_ac": "A1ZBA5",
            "uniprot_id": "A1ZBA5_DROME",
            "refseq_ac": "NP_523785",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5497-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "mRpS28-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS28",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH13070",
                    "type": "synonym"
                },
                {
                    "name": "CG5497",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5497",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5497",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S35",
                    "type": "synonym"
                },
                {
                    "name": "mRpS28",
                    "type": "synonym"
                },
                {
                    "name": "mrpS28",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBA5-1",
            "evidence": [
                {
                    "id": "0112114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112114"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112114"
}