{
    "disease_id": "DOID:0112081",
    "recommended_name": {
        "id": "DOID:0112081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112081",
        "name": "nuclear type mitochondrial complex I deficiency 8",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112081",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112081",
            "name": "MC1DN8",
            "description": ""
        },
        {
            "id": "MONDO:0032613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032613",
            "name": "mitochondrial complex I deficiency, nuclear type 8",
            "description": ""
        },
        {
            "id": "MONDO:0032613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032613",
            "name": "MC1DN8",
            "description": ""
        },
        {
            "id": "MIM:618230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618230",
            "name": "Mitochondrial complex I deficiency, nuclear type 8",
            "description": "Mitochondrial complex I deficiency, nuclear type 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112081",
            "categories": []
        },
        {
            "id": "MONDO:0032613",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032613",
            "categories": []
        },
        {
            "id": "MIM:618230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DCT2-1",
            "uniprot_ac": "Q9DCT2",
            "uniprot_id": "NDUS3_MOUSE",
            "refseq_ac": "NP_080964",
            "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 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-30kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-30kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-30kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs3",
                    "type": "recommended"
                },
                {
                    "name": "0610010M09Rik",
                    "type": "synonym"
                },
                {
                    "name": "CI-30kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCT2-1",
            "evidence": [
                {
                    "id": "0112081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75489-1",
            "uniprot_ac": "O75489",
            "uniprot_id": "NDUS3_HUMAN",
            "refseq_ac": "NP_004542",
            "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 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-30kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-30kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase-ubiquinone 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 30kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-30kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS3",
                    "type": "recommended"
                },
                {
                    "name": "CI-30",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN8",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75489-1",
            "evidence": [
                {
                    "id": "618230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618230"
                },
                {
                    "id": "0112081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG43-1",
            "uniprot_ac": "D3ZG43",
            "uniprot_id": "D3ZG43_RAT",
            "refseq_ac": "",
            "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 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-30kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 30 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs3",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZG43-1",
            "evidence": [
                {
                    "id": "0112081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZU4-1",
            "uniprot_ac": "Q9VZU4",
            "uniprot_id": "NDUS3_DROME",
            "refseq_ac": "NP_647775",
            "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] iron-sulfur protein 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "30 kDa subunit of complex-I",
                    "type": "synonym"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG12079-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (Ubiquinone) 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 30 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-UBIQUINONE OXIDOREDUCTASE 30 KDA SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-30-PA",
                    "type": "synonym"
                },
                {
                    "name": "complex I 30 kDa",
                    "type": "synonym"
                },
                {
                    "name": "nuclear-encoded subunit NDUFS3 of complex I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-30",
                    "type": "recommended"
                },
                {
                    "name": "C-I 30",
                    "type": "synonym"
                },
                {
                    "name": "C-I-NDUFS3",
                    "type": "synonym"
                },
                {
                    "name": "C-I30",
                    "type": "synonym"
                },
                {
                    "name": "CG 12079",
                    "type": "synonym"
                },
                {
                    "name": "CG12079",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12079",
                    "type": "synonym"
                },
                {
                    "name": "ND-30",
                    "type": "synonym"
                },
                {
                    "name": "ND30",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS3",
                    "type": "synonym"
                },
                {
                    "name": "NDufS3",
                    "type": "synonym"
                },
                {
                    "name": "NUGM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZU4-1",
            "evidence": [
                {
                    "id": "0112081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112081"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112081"
}