{
    "disease_id": "DOID:0112083",
    "recommended_name": {
        "id": "DOID:0112083",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112083",
        "name": "nuclear type mitochondrial complex I deficiency 2",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112083",
            "name": "MC1DN2",
            "description": ""
        },
        {
            "id": "MONDO:0032606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032606",
            "name": "mitochondrial complex I deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0032606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032606",
            "name": "MC1DN2",
            "description": ""
        },
        {
            "id": "MIM:618222",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618222",
            "name": "Mitochondrial complex I deficiency, nuclear type 2",
            "description": "Mitochondrial complex I deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112083"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112083",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112083",
            "categories": []
        },
        {
            "id": "MONDO:0032606",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032606",
            "categories": []
        },
        {
            "id": "MIM:618222",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618222",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N6N6-1",
            "uniprot_ac": "A0A8M1N6N6",
            "uniprot_id": "A0A8M1N6N6_DANRE",
            "refseq_ac": "NP_001019573",
            "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 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-23kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 8b",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase core subunit S8b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufs8b",
                    "type": "recommended"
                },
                {
                    "name": "ndufs8b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109991",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N6N6-1",
            "evidence": [
                {
                    "id": "0112083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3J1-1",
            "uniprot_ac": "Q8K3J1",
            "uniprot_id": "NDUS8_MOUSE",
            "refseq_ac": "NP_001258372",
            "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 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-23kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-23kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-23kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs8",
                    "type": "recommended"
                },
                {
                    "name": "CI-23kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs8",
                    "type": "synonym"
                },
                {
                    "name": "TYKY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3J1-1",
            "evidence": [
                {
                    "id": "0112083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00217-1",
            "uniprot_ac": "O00217",
            "uniprot_id": "NDUS8_HUMAN",
            "refseq_ac": "NP_002487",
            "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 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-23kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-23kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TYKY subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 23kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-23kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS8",
                    "type": "recommended"
                },
                {
                    "name": "CI-23k",
                    "type": "synonym"
                },
                {
                    "name": "CI23KD",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN2",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS8",
                    "type": "synonym"
                },
                {
                    "name": "TYKY",
                    "type": "synonym"
                }
            ],
            "record_id": "O00217-1",
            "evidence": [
                {
                    "id": "618222",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618222"
                },
                {
                    "id": "0112083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FGW7-1",
            "uniprot_ac": "F7FGW7",
            "uniprot_id": "F7FGW7_RAT",
            "refseq_ac": "",
            "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] iron-sulfur protein 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-23kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 23 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs8",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FGW7-1",
            "evidence": [
                {
                    "id": "0112083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112083"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF27-1",
            "uniprot_ac": "Q9VF27",
            "uniprot_id": "NDUS8_DROME",
            "refseq_ac": "NP_524719",
            "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) 23 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3944-PA",
                    "type": "synonym"
                },
                {
                    "name": "COMPLEX I: 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 23 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-UBIQUINONE OXIDOREDUCTASE 23 KDA SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "NADH: UBIQUINONE REDUCTASE 23 KD SUBUNIT PRECURSOR",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 23 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 23kD subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "ND-23-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-23",
                    "type": "recommended"
                },
                {
                    "name": "CG3944",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3944",
                    "type": "synonym"
                },
                {
                    "name": "ND 23",
                    "type": "synonym"
                },
                {
                    "name": "ND-23",
                    "type": "synonym"
                },
                {
                    "name": "ND23",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS8",
                    "type": "synonym"
                },
                {
                    "name": "NUIM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF27-1",
            "evidence": [
                {
                    "id": "0112083",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112083"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112083"
}