{
    "disease_id": "DOID:0112118",
    "recommended_name": {
        "id": "DOID:0112118",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112118",
        "name": "combined oxidative phosphorylation deficiency 42",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112118",
            "name": "COXPD42",
            "description": ""
        },
        {
            "id": "MONDO:0030008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030008",
            "name": "combined oxidative phosphorylation deficiency 42",
            "description": ""
        },
        {
            "id": "MONDO:0030008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030008",
            "name": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42",
            "description": ""
        },
        {
            "id": "MONDO:0030008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030008",
            "name": "COXPD42",
            "description": ""
        },
        {
            "id": "MONDO:0030008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030008",
            "name": "combined oxidative phosphorylation deficiency 42",
            "description": ""
        },
        {
            "id": "MIM:618839",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618839",
            "name": "Combined oxidative phosphorylation deficiency 42",
            "description": "Combined oxidative phosphorylation deficiency 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112118"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112118",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112118",
            "categories": []
        },
        {
            "id": "MONDO:0030008",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030008",
            "categories": []
        },
        {
            "id": "MIM:618839",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618839",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BHB7-1",
            "uniprot_ac": "A2BHB7",
            "uniprot_id": "GATC_DANRE",
            "refseq_ac": "NP_001288258",
            "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 C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gatc",
                    "type": "recommended"
                },
                {
                    "name": "GATC",
                    "type": "synonym"
                },
                {
                    "name": "gatc",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1c23.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BHB7-1",
            "evidence": [
                {
                    "id": "0112118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CBY0-1",
            "uniprot_ac": "Q8CBY0",
            "uniprot_id": "GATC_MOUSE",
            "refseq_ac": "NP_083921",
            "glycoprotein": "no",
            "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 C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "gatC-like protein",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase, subunit C homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatc",
                    "type": "recommended"
                },
                {
                    "name": "2010003O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gatc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CBY0-1",
            "evidence": [
                {
                    "id": "0112118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43716-1",
            "uniprot_ac": "O43716",
            "uniprot_id": "GATC_HUMAN",
            "refseq_ac": "NP_789788",
            "glycoprotein": "yes",
            "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 C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "Protein 15E1.2",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase, subunit C homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATC",
                    "type": "recommended"
                },
                {
                    "name": "15E1.2",
                    "type": "synonym"
                },
                {
                    "name": "COXPD42",
                    "type": "synonym"
                },
                {
                    "name": "GATC",
                    "type": "synonym"
                }
            ],
            "record_id": "O43716-1",
            "evidence": [
                {
                    "id": "618839",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618839"
                },
                {
                    "id": "0112118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZY68-1",
            "uniprot_ac": "D3ZY68",
            "uniprot_id": "GATC_RAT",
            "refseq_ac": "NP_001101809",
            "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 C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "gatC-like protein",
                    "type": "synonym"
                },
                {
                    "name": "glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA(Gln) amidotransferase, subunit C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatc",
                    "type": "recommended"
                },
                {
                    "name": "GATC",
                    "type": "synonym"
                },
                {
                    "name": "Gatc",
                    "type": "synonym"
                },
                {
                    "name": "LOC100909836",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309698",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZY68-1",
            "evidence": [
                {
                    "id": "0112118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86BL4-1",
            "uniprot_ac": "Q86BL4",
            "uniprot_id": "GATC_DROME",
            "refseq_ac": "NP_001027263",
            "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 C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG33649-PA",
                    "type": "synonym"
                },
                {
                    "name": "GatC-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glu-AdT subunit C",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA amidotransferase, subunit C",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA amidotransferase subunit C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GatC",
                    "type": "recommended"
                },
                {
                    "name": "CG33084-ORFA",
                    "type": "synonym"
                },
                {
                    "name": "CG33084",
                    "type": "synonym"
                },
                {
                    "name": "CG33649",
                    "type": "synonym"
                },
                {
                    "name": "CG8969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33649",
                    "type": "synonym"
                },
                {
                    "name": "GatC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86BL4-1",
            "evidence": [
                {
                    "id": "0112118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112118"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112118"
}