{
    "disease_id": "DOID:0111472",
    "recommended_name": {
        "id": "DOID:0111472",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111472",
        "name": "combined oxidative phosphorylation deficiency 9",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111472",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111472",
            "name": "COXPD9",
            "description": ""
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "combined oxidative phosphorylation defect type 9",
            "description": "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V."
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "COXPD9",
            "description": ""
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "MRPL3 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPL3",
            "description": ""
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "combined oxidative phosphorylation deficiency type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "name": "combined oxidative phosphorylation deficiency 9",
            "description": ""
        },
        {
            "id": "MIM:614582",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614582",
            "name": "Combined oxidative phosphorylation deficiency 9",
            "description": "Combined oxidative phosphorylation deficiency 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111472"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111472",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111472",
            "categories": []
        },
        {
            "id": "MONDO:0013811",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013811",
            "categories": []
        },
        {
            "id": "MIM:614582",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614582",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IY00-1",
            "uniprot_ac": "A0A0R4IY00",
            "uniprot_id": "A0A0R4IY00_DANRE",
            "refseq_ac": "NP_956301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrpl3",
                    "type": "recommended"
                },
                {
                    "name": "fj61d01",
                    "type": "synonym"
                },
                {
                    "name": "mrpl3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj61d01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66423",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IY00-1",
            "evidence": [
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99N95-1",
            "uniprot_ac": "Q99N95",
            "uniprot_id": "RM03_MOUSE",
            "refseq_ac": "NP_444389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L3mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L3",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3m isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl3",
                    "type": "recommended"
                },
                {
                    "name": "2010320L16Rik",
                    "type": "synonym"
                },
                {
                    "name": "5930422H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "L3mt",
                    "type": "synonym"
                },
                {
                    "name": "Mrpl3",
                    "type": "synonym"
                },
                {
                    "name": "dcr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99N95-1",
            "evidence": [
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09001-1",
            "uniprot_ac": "P09001",
            "uniprot_id": "RM03_HUMAN",
            "refseq_ac": "NP_009139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L3mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L3",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3m",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 60S ribosomal protein L3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial large ribosomal subunit protein uL3m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPL3",
                    "type": "recommended"
                },
                {
                    "name": "COXPD9",
                    "type": "synonym"
                },
                {
                    "name": "MRL3",
                    "type": "synonym"
                },
                {
                    "name": "MRPL3",
                    "type": "synonym"
                },
                {
                    "name": "RPML3",
                    "type": "synonym"
                },
                {
                    "name": "uL3m",
                    "type": "synonym"
                }
            ],
            "record_id": "P09001-1",
            "evidence": [
                {
                    "id": "614582",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614582"
                },
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31334-1",
            "uniprot_ac": "P31334",
            "uniprot_id": "RM09_YEAST",
            "refseq_ac": "NP_011736",
            "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": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "54S ribosomal protein L9, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "YmL9",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 54S ribosomal protein uL3m MRPL9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPL9",
                    "type": "recommended"
                },
                {
                    "name": "G8520",
                    "type": "synonym"
                },
                {
                    "name": "MRPL9",
                    "type": "synonym"
                },
                {
                    "name": "uL3m",
                    "type": "synonym"
                }
            ],
            "record_id": "P31334-1",
            "evidence": [
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18665-1",
            "uniprot_ac": "P18665",
            "uniprot_id": "RM03_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": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L3mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl3",
                    "type": "recommended"
                },
                {
                    "name": "Mrl3",
                    "type": "synonym"
                },
                {
                    "name": "Rpml3",
                    "type": "synonym"
                }
            ],
            "record_id": "P18665-1",
            "evidence": [
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXQ0-1",
            "uniprot_ac": "Q9VXQ0",
            "uniprot_id": "Q9VXQ0_DROME",
            "refseq_ac": "NP_511166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3m",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG8288-PA",
                    "type": "synonym"
                },
                {
                    "name": "mRpL3-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein L3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpL3",
                    "type": "recommended"
                },
                {
                    "name": "CG8288",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8288",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8288",
                    "type": "synonym"
                },
                {
                    "name": "L3",
                    "type": "synonym"
                },
                {
                    "name": "mRpL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXQ0-1",
            "evidence": [
                {
                    "id": "0111472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111472"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111472"
}