{
    "disease_id": "DOID:0112070",
    "recommended_name": {
        "id": "DOID:0112070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112070",
        "name": "nuclear type mitochondrial complex I deficiency 18",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112070",
            "name": "MC1DN18",
            "description": ""
        },
        {
            "id": "MONDO:0032623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032623",
            "name": "mitochondrial complex I deficiency, nuclear type 18",
            "description": ""
        },
        {
            "id": "MONDO:0032623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032623",
            "name": "MC1DN18",
            "description": ""
        },
        {
            "id": "MIM:618240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618240",
            "name": "Mitochondrial complex I deficiency, nuclear type 18",
            "description": "Mitochondrial complex I deficiency, nuclear type 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112070",
            "categories": []
        },
        {
            "id": "MONDO:0032623",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032623",
            "categories": []
        },
        {
            "id": "MIM:618240",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618240",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L1F1-1",
            "uniprot_ac": "A1L1F1",
            "uniprot_id": "NDUF3_DANRE",
            "refseq_ac": "NP_001417798",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf3",
                    "type": "recommended"
                },
                {
                    "name": "fc05g04",
                    "type": "synonym"
                },
                {
                    "name": "ndufaf3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc05g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153176",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1F1-1",
            "evidence": [
                {
                    "id": "0112070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKL4-1",
            "uniprot_ac": "Q9JKL4",
            "uniprot_id": "NDUF3_MOUSE",
            "refseq_ac": "NP_075736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein 2P1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein E3-3",
                    "type": "synonym"
                },
                {
                    "name": "protein 2P1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf3",
                    "type": "recommended"
                },
                {
                    "name": "4733401H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKL4-1",
            "evidence": [
                {
                    "id": "0112070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BU61-1",
            "uniprot_ac": "Q9BU61",
            "uniprot_id": "NDUF3_HUMAN",
            "refseq_ac": "NP_951032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein E3-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF3",
                    "type": "recommended"
                },
                {
                    "name": "2P1",
                    "type": "synonym"
                },
                {
                    "name": "C3orf60",
                    "type": "synonym"
                },
                {
                    "name": "E3-3",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN18",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BU61-1",
            "evidence": [
                {
                    "id": "618240",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618240"
                },
                {
                    "id": "0112070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08776-1",
            "uniprot_ac": "O08776",
            "uniprot_id": "NDUF3_RAT",
            "refseq_ac": "NP_001029143",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein E3-3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein E3-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf3",
                    "type": "recommended"
                },
                {
                    "name": "Ndufaf3",
                    "type": "synonym"
                },
                {
                    "name": "RGD708545",
                    "type": "synonym"
                }
            ],
            "record_id": "O08776-1",
            "evidence": [
                {
                    "id": "0112070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H9-1",
            "uniprot_ac": "Q9W1H9",
            "uniprot_id": "NDUF3_DROME",
            "refseq_ac": "NP_611840",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3",
                    "type": "recommended"
                },
                {
                    "name": "CG5569-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF3",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NdufAF3",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD18780",
                    "type": "synonym"
                },
                {
                    "name": "CG5569",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5569",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H9-1",
            "evidence": [
                {
                    "id": "0112070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112070"
}