{
    "disease_id": "DOID:0111483",
    "recommended_name": {
        "id": "DOID:0111483",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111483",
        "name": "combined oxidative phosphorylation deficiency 2",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111483",
            "name": "COXPD2",
            "description": ""
        },
        {
            "id": "DOID:0111483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111483",
            "name": "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "combined oxidative phosphorylation defect type 2",
            "description": "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined."
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "COXPD2",
            "description": ""
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "MRPS16 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPS16",
            "description": ""
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "combined oxidative phosphorylation deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "name": "combined oxidative phosphorylation deficiency 2",
            "description": ""
        },
        {
            "id": "MIM:610498",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610498",
            "name": "Combined oxidative phosphorylation deficiency 2",
            "description": "Combined oxidative phosphorylation deficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111483"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111483",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111483",
            "categories": []
        },
        {
            "id": "MONDO:0012510",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012510",
            "categories": []
        },
        {
            "id": "MIM:610498",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610498",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CPX7-1",
            "uniprot_ac": "Q9CPX7",
            "uniprot_id": "RT16_MOUSE",
            "refseq_ac": "NP_079716",
            "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 bS16m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S16, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S16",
                    "type": "synonym"
                },
                {
                    "name": "S16mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS16m precursor",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS16m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps16",
                    "type": "recommended"
                },
                {
                    "name": "1500011E11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mprs16",
                    "type": "synonym"
                },
                {
                    "name": "Mrps16",
                    "type": "synonym"
                },
                {
                    "name": "Rpms16",
                    "type": "synonym"
                },
                {
                    "name": "S16mt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPX7-1",
            "evidence": [
                {
                    "id": "0111483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3D3-1",
            "uniprot_ac": "Q9Y3D3",
            "uniprot_id": "RT16_HUMAN",
            "refseq_ac": "NP_057149",
            "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 bS16m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S16, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S16",
                    "type": "synonym"
                },
                {
                    "name": "S16mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein bS16m",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein bS16m isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS16",
                    "type": "recommended"
                },
                {
                    "name": "CGI-132",
                    "type": "synonym"
                },
                {
                    "name": "COXPD2",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S16",
                    "type": "synonym"
                },
                {
                    "name": "MRPS16",
                    "type": "synonym"
                },
                {
                    "name": "RPMS16",
                    "type": "synonym"
                },
                {
                    "name": "S16mt",
                    "type": "synonym"
                },
                {
                    "name": "bS16m",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3D3-1",
            "evidence": [
                {
                    "id": "610498",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610498"
                },
                {
                    "id": "0111483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02608-1",
            "uniprot_ac": "Q02608",
            "uniprot_id": "RT16_YEAST",
            "refseq_ac": "NP_015312",
            "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 bS16m",
                    "type": "recommended"
                },
                {
                    "name": "37S ribosomal protein S16, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein bS16m MRPS16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS16",
                    "type": "recommended"
                },
                {
                    "name": "LPA4C",
                    "type": "synonym"
                },
                {
                    "name": "MRPS16",
                    "type": "synonym"
                },
                {
                    "name": "bS16m",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02608-1",
            "evidence": [
                {
                    "id": "0111483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7X1-1",
            "uniprot_ac": "D4A7X1",
            "uniprot_id": "D4A7X1_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 bS16m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S16, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps16",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A7X1-1",
            "evidence": [
                {
                    "id": "0111483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V6Y3-1",
            "uniprot_ac": "Q9V6Y3",
            "uniprot_id": "RT16_DROME",
            "refseq_ac": "NP_523737",
            "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 bS16m",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S16, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG8338-PA",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S16",
                    "type": "synonym"
                },
                {
                    "name": "S16mt",
                    "type": "synonym"
                },
                {
                    "name": "mRpS16-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS16",
                    "type": "recommended"
                },
                {
                    "name": "147189_at",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD15809",
                    "type": "synonym"
                },
                {
                    "name": "CG8338",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8338",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S16",
                    "type": "synonym"
                },
                {
                    "name": "MRPS16",
                    "type": "synonym"
                },
                {
                    "name": "mRpS16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V6Y3-1",
            "evidence": [
                {
                    "id": "0111483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111483"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111483"
}