{
    "disease_id": "DOID:0112066",
    "recommended_name": {
        "id": "DOID:0112066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112066",
        "name": "nuclear type mitochondrial complex I deficiency 6",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0112066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112066",
            "name": "MC1DN6",
            "description": ""
        },
        {
            "id": "MONDO:0032611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032611",
            "name": "mitochondrial complex I deficiency, nuclear type 6",
            "description": ""
        },
        {
            "id": "MONDO:0032611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032611",
            "name": "MC1DN6",
            "description": ""
        },
        {
            "id": "MIM:618228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618228",
            "name": "Mitochondrial complex I deficiency, nuclear type 6",
            "description": "Mitochondrial complex I deficiency, nuclear type 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112066"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112066",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112066",
            "categories": []
        },
        {
            "id": "MONDO:0032611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032611",
            "categories": []
        },
        {
            "id": "MIM:618228",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618228",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q4N4-1",
            "uniprot_ac": "F1Q4N4",
            "uniprot_id": "F1Q4N4_DANRE",
            "refseq_ac": "NP_001018481",
            "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] iron-sulfur protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-49kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufs2",
                    "type": "recommended"
                },
                {
                    "name": "im:7149850",
                    "type": "synonym"
                },
                {
                    "name": "ndufs2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112036",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q4N4-1",
            "evidence": [
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WD5-1",
            "uniprot_ac": "Q91WD5",
            "uniprot_id": "NDUS2_MOUSE",
            "refseq_ac": "NP_694704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-49kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-49kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-coenzyme Q reductase",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-49kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs2",
                    "type": "recommended"
                },
                {
                    "name": "CI-49kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WD5-1",
            "evidence": [
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75306-1",
            "uniprot_ac": "O75306",
            "uniprot_id": "NDUS2_HUMAN",
            "refseq_ac": "NP_001159631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-49kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-49kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase NDUFS2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex 1, mitochondrial respiratory chain, 49-KD subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 49kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS2",
                    "type": "recommended"
                },
                {
                    "name": "CI-49",
                    "type": "synonym"
                },
                {
                    "name": "LHONAR2",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN6",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75306-1",
            "evidence": [
                {
                    "id": "618228",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618228"
                },
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q641Y2-1",
            "uniprot_ac": "Q641Y2",
            "uniprot_id": "NDUS2_RAT",
            "refseq_ac": "NP_001011907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-49kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-49kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-49kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs2",
                    "type": "recommended"
                },
                {
                    "name": "Ndufs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q641Y2-1",
            "evidence": [
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBR4-1",
            "uniprot_ac": "Q9VBR4",
            "uniprot_id": "Q9VBR4_DROME",
            "refseq_ac": "NP_651392",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I-49kD",
                    "type": "recommended"
                },
                {
                    "name": "CG11913-PB",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 49 kDa subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-49L-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-49L",
                    "type": "recommended"
                },
                {
                    "name": "CG111913",
                    "type": "synonym"
                },
                {
                    "name": "CG11913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11913",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11913",
                    "type": "synonym"
                },
                {
                    "name": "ND-49L",
                    "type": "synonym"
                },
                {
                    "name": "NUCM",
                    "type": "synonym"
                },
                {
                    "name": "Q9VBR4_DROME",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBR4-1",
            "evidence": [
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4E0-1",
            "uniprot_ac": "Q9V4E0",
            "uniprot_id": "Q9V4E0_DROME",
            "refseq_ac": "NP_001259064",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I-49kD",
                    "type": "recommended"
                },
                {
                    "name": "CG1970-PB",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0088174",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 49 kDa subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 49 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 49 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-49-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-49",
                    "type": "recommended"
                },
                {
                    "name": "CG 1970",
                    "type": "synonym"
                },
                {
                    "name": "CG1970",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1970",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1970",
                    "type": "synonym"
                },
                {
                    "name": "ND-49",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS2",
                    "type": "synonym"
                },
                {
                    "name": "NUCM",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs2",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS2A",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4E0-1",
            "evidence": [
                {
                    "id": "0112066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112066"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112066"
}