{
    "disease_id": "DOID:0111482",
    "recommended_name": {
        "id": "DOID:0111482",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111482",
        "name": "combined oxidative phosphorylation deficiency 36",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111482",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111482",
            "name": "COXPD36",
            "description": ""
        },
        {
            "id": "MONDO:0054781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054781",
            "name": "combined oxidative phosphorylation deficiency 36",
            "description": ""
        },
        {
            "id": "MONDO:0054781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054781",
            "name": "combined oxidative phosphorylation deficiency 36",
            "description": ""
        },
        {
            "id": "MONDO:0054781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054781",
            "name": "COXPD36",
            "description": ""
        },
        {
            "id": "MIM:617950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617950",
            "name": "Combined oxidative phosphorylation deficiency 36",
            "description": "Combined oxidative phosphorylation deficiency 36"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111482"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111482",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111482",
            "categories": []
        },
        {
            "id": "MONDO:0054781",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054781",
            "categories": []
        },
        {
            "id": "MIM:617950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q924T2-1",
            "uniprot_ac": "Q924T2",
            "uniprot_id": "RT02_MOUSE",
            "refseq_ac": "NP_001159503",
            "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 uS2m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S2",
                    "type": "synonym"
                },
                {
                    "name": "S2mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS2m isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS2m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps2",
                    "type": "recommended"
                },
                {
                    "name": "1500019M10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924T2-1",
            "evidence": [
                {
                    "id": "0111482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y399-1",
            "uniprot_ac": "Q9Y399",
            "uniprot_id": "RT02_HUMAN",
            "refseq_ac": "NP_057118",
            "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 uS2m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S2",
                    "type": "synonym"
                },
                {
                    "name": "S2mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein uS2m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS2m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS2",
                    "type": "recommended"
                },
                {
                    "name": "CGI-91",
                    "type": "synonym"
                },
                {
                    "name": "COXPD36",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S2",
                    "type": "synonym"
                },
                {
                    "name": "MRPS2",
                    "type": "synonym"
                },
                {
                    "name": "S2mt",
                    "type": "synonym"
                },
                {
                    "name": "uS2m",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y399-1",
            "evidence": [
                {
                    "id": "617950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617950"
                },
                {
                    "id": "0111482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32902-1",
            "uniprot_ac": "P32902",
            "uniprot_id": "RT04_YEAST",
            "refseq_ac": "NP_011859",
            "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 uS2m",
                    "type": "recommended"
                },
                {
                    "name": "37S ribosomal protein MRP4, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein uS2m MRP4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRP4",
                    "type": "recommended"
                },
                {
                    "name": "MRP4A",
                    "type": "synonym"
                },
                {
                    "name": "MRP4",
                    "type": "synonym"
                },
                {
                    "name": "uS2m",
                    "type": "synonym"
                }
            ],
            "record_id": "P32902-1",
            "evidence": [
                {
                    "id": "0111482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L579-1",
            "uniprot_ac": "A0ABK0L579",
            "uniprot_id": "A0ABK0L579_RAT",
            "refseq_ac": "",
            "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 uS2m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L579-1",
            "evidence": [
                {
                    "id": "0111482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111482"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111482"
}