{
    "disease_id": "DOID:0112117",
    "recommended_name": {
        "id": "DOID:0112117",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112117",
        "name": "combined oxidative phosphorylation deficiency 40",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0112117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112117",
            "name": "COXPD40",
            "description": ""
        },
        {
            "id": "DOID:0112117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112117",
            "name": "QRSL1-related COXPD",
            "description": ""
        },
        {
            "id": "MONDO:0030006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030006",
            "name": "combined oxidative phosphorylation deficiency 40",
            "description": ""
        },
        {
            "id": "MONDO:0030006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030006",
            "name": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40",
            "description": ""
        },
        {
            "id": "MONDO:0030006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030006",
            "name": "COXPD40",
            "description": ""
        },
        {
            "id": "MONDO:0030006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030006",
            "name": "combined oxidative phosphorylation deficiency 40",
            "description": ""
        },
        {
            "id": "MIM:618835",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618835",
            "name": "Combined oxidative phosphorylation deficiency 40",
            "description": "Combined oxidative phosphorylation deficiency 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112117"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112117",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112117",
            "categories": []
        },
        {
            "id": "MONDO:0030006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030006",
            "categories": []
        },
        {
            "id": "MIM:618835",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618835",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QAJ4-1",
            "uniprot_ac": "F1QAJ4",
            "uniprot_id": "GATA_DANRE",
            "refseq_ac": "NP_001112370",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "QRSL1, glutaminyl-tRNA amidotransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "qrsl1",
                    "type": "recommended"
                },
                {
                    "name": "QRSL1",
                    "type": "synonym"
                },
                {
                    "name": "qrsl1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi03b10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QAJ4-1",
            "evidence": [
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZN8-1",
            "uniprot_ac": "Q9CZN8",
            "uniprot_id": "GATA_MOUSE",
            "refseq_ac": "NP_001074523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A homolog",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Qrsl1",
                    "type": "recommended"
                },
                {
                    "name": "2700038P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "GatA",
                    "type": "synonym"
                },
                {
                    "name": "Qrsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZN8-1",
            "evidence": [
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0R6-1",
            "uniprot_ac": "Q9H0R6",
            "uniprot_id": "GATA_HUMAN",
            "refseq_ac": "NP_060762",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "QRSL1, glutaminyl-tRNA amidotransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A homolog",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase, subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QRSL1",
                    "type": "recommended"
                },
                {
                    "name": "COXPD40",
                    "type": "synonym"
                },
                {
                    "name": "GatA",
                    "type": "synonym"
                },
                {
                    "name": "QRSL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0R6-1",
            "evidence": [
                {
                    "id": "618835",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618835"
                },
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03557-1",
            "uniprot_ac": "Q03557",
            "uniprot_id": "GATA_YEAST",
            "refseq_ac": "NP_014021",
            "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": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "HMG2-induced ER-remodeling protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Loss of respiratory capacity protein 6",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit HER2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HER2",
                    "type": "recommended"
                },
                {
                    "name": "GEP6",
                    "type": "synonym"
                },
                {
                    "name": "HER2",
                    "type": "synonym"
                },
                {
                    "name": "LRC6",
                    "type": "synonym"
                },
                {
                    "name": "QRS1",
                    "type": "synonym"
                },
                {
                    "name": "RRG6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03557-1",
            "evidence": [
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FWT5-1",
            "uniprot_ac": "Q5FWT5",
            "uniprot_id": "GATA_RAT",
            "refseq_ac": "NP_001014056",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "QRSL1, glutaminyl-tRNA amidotransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "glutaminyl-tRNA synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A homolog",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Qrsl1",
                    "type": "recommended"
                },
                {
                    "name": "QRSL1",
                    "type": "synonym"
                },
                {
                    "name": "Qrsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FWT5-1",
            "evidence": [
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE09-1",
            "uniprot_ac": "Q9VE09",
            "uniprot_id": "GATA_DROME",
            "refseq_ac": "NP_650775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.7",
                    "type": "synonym"
                },
                {
                    "name": "CG6007-PA",
                    "type": "synonym"
                },
                {
                    "name": "GatA-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA amidotransferase, subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA(Gln) amidotransferase, subunit A",
                    "type": "synonym"
                },
                {
                    "name": "benedict",
                    "type": "synonym"
                },
                {
                    "name": "gatA",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA amidotransferase A",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA amidotransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S092902",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GatA",
                    "type": "recommended"
                },
                {
                    "name": "0929/02",
                    "type": "synonym"
                },
                {
                    "name": "CG6007",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6007",
                    "type": "synonym"
                },
                {
                    "name": "GATA",
                    "type": "synonym"
                },
                {
                    "name": "GatA",
                    "type": "synonym"
                },
                {
                    "name": "benedict",
                    "type": "synonym"
                },
                {
                    "name": "bene",
                    "type": "synonym"
                },
                {
                    "name": "gatA",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S092902",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE09-1",
            "evidence": [
                {
                    "id": "0112117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112117"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112117"
}