{
    "disease_id": "DOID:0112085",
    "recommended_name": {
        "id": "DOID:0112085",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112085",
        "name": "nuclear type mitochondrial complex I deficiency 19",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112085",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112085",
            "name": "MC1DN19",
            "description": ""
        },
        {
            "id": "MONDO:0032624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032624",
            "name": "mitochondrial complex I deficiency, nuclear type 19",
            "description": ""
        },
        {
            "id": "MONDO:0032624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032624",
            "name": "MC1DN19",
            "description": ""
        },
        {
            "id": "MIM:618241",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618241",
            "name": "Mitochondrial complex I deficiency, nuclear type 19",
            "description": "Mitochondrial complex I deficiency, nuclear type 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112085"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112085",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112085",
            "categories": []
        },
        {
            "id": "MONDO:0032624",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032624",
            "categories": []
        },
        {
            "id": "MIM:618241",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618241",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3TQB2-1",
            "uniprot_ac": "Q3TQB2",
            "uniprot_id": "FXRD1_MOUSE",
            "refseq_ac": "NP_001278377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "testis expressed gene 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxred1",
                    "type": "recommended"
                },
                {
                    "name": "Foxred1",
                    "type": "synonym"
                },
                {
                    "name": "TEG-23",
                    "type": "synonym"
                },
                {
                    "name": "Tex23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TQB2-1",
            "evidence": [
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96CU9-1",
            "uniprot_ac": "Q96CU9",
            "uniprot_id": "FXRD1_HUMAN",
            "refseq_ac": "NP_060017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXRED1",
                    "type": "recommended"
                },
                {
                    "name": "FOXRED1",
                    "type": "synonym"
                },
                {
                    "name": "FP634",
                    "type": "synonym"
                },
                {
                    "name": "H17",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96CU9-1",
            "evidence": [
                {
                    "id": "618241",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618241"
                },
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38758-1",
            "uniprot_ac": "P38758",
            "uniprot_id": "TDA3_YEAST",
            "refseq_ac": "NP_011873",
            "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": "Putative oxidoreductase TDA3",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Batten disease protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Tda3p",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I damage affected protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDA3",
                    "type": "recommended"
                },
                {
                    "name": "BTN3",
                    "type": "synonym"
                },
                {
                    "name": "TDA3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38758-1",
            "evidence": [
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEH2-1",
            "uniprot_ac": "D3ZEH2",
            "uniprot_id": "D3ZEH2_RAT",
            "refseq_ac": "NP_001406862",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxred1",
                    "type": "recommended"
                },
                {
                    "name": "Foxred1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311785",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEH2-1",
            "evidence": [
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6N5-1",
            "uniprot_ac": "A1Z6N5",
            "uniprot_id": "A1Z6N5_DROME",
            "refseq_ac": "NP_610228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG3270-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3270",
                    "type": "recommended"
                },
                {
                    "name": "CG3270",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3270",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3270",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6N5-1",
            "evidence": [
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ10-1",
            "uniprot_ac": "Q9VJ10",
            "uniprot_id": "FXRD1_DROME",
            "refseq_ac": "NP_536791",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAD-dependent oxidoreductase domain-containing protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG10655-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein lethal (2) 37Bb",
                    "type": "synonym"
                },
                {
                    "name": "dFOXRED1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bb-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 37Bb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)37Bb",
                    "type": "recommended"
                },
                {
                    "name": "Bb",
                    "type": "synonym"
                },
                {
                    "name": "CG10655",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10655",
                    "type": "synonym"
                },
                {
                    "name": "dFOXRED1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35B2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)E58",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ10-1",
            "evidence": [
                {
                    "id": "0112085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112085"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112085"
}