{
    "disease_id": "DOID:0112067",
    "recommended_name": {
        "id": "DOID:0112067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112067",
        "name": "nuclear type mitochondrial complex I deficiency 25",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112067",
            "name": "MC1DN25",
            "description": ""
        },
        {
            "id": "MONDO:0032629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032629",
            "name": "mitochondrial complex I deficiency, nuclear type 25",
            "description": ""
        },
        {
            "id": "MONDO:0032629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032629",
            "name": "MC1DN25",
            "description": ""
        },
        {
            "id": "MIM:618246",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618246",
            "name": "Mitochondrial complex I deficiency, nuclear type 25",
            "description": "Mitochondrial complex I deficiency, nuclear type 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112067"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112067",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112067",
            "categories": []
        },
        {
            "id": "MONDO:0032629",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032629",
            "categories": []
        },
        {
            "id": "MIM:618246",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618246",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQZ6-1",
            "uniprot_ac": "Q9CQZ6",
            "uniprot_id": "NDUB3_MOUSE",
            "refseq_ac": "NP_079873",
            "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] 1 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "CI-B12",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb3",
                    "type": "recommended"
                },
                {
                    "name": "2700033I16Rik",
                    "type": "synonym"
                },
                {
                    "name": "CI-B12",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQZ6-1",
            "evidence": [
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43676-1",
            "uniprot_ac": "O43676",
            "uniprot_id": "NDUB3_HUMAN",
            "refseq_ac": "NP_001244031",
            "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 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "CI-B12",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFB3",
                    "type": "recommended"
                },
                {
                    "name": "B12",
                    "type": "synonym"
                },
                {
                    "name": "CI-B12",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN25",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB3",
                    "type": "synonym"
                }
            ],
            "record_id": "O43676-1",
            "evidence": [
                {
                    "id": "618246",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618246"
                },
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A1W0-1",
            "uniprot_ac": "A0A8I6A1W0",
            "uniprot_id": "A0A8I6A1W0_RAT",
            "refseq_ac": "XP_063133024",
            "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 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb3l3",
                    "type": "recommended"
                },
                {
                    "name": "LOC103694107",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb3l3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A1W0-1",
            "evidence": [
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y9A4-1",
            "uniprot_ac": "A0A8I5Y9A4",
            "uniprot_id": "A0A8I5Y9A4_RAT",
            "refseq_ac": "XP_063123013",
            "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 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb3",
                    "type": "recommended"
                },
                {
                    "name": "Ndufb3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y9A4-1",
            "evidence": [
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RA24-1",
            "uniprot_ac": "M0RA24",
            "uniprot_id": "M0RA24_RAT",
            "refseq_ac": "XP_038964453",
            "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 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb3l1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07060996.1",
                    "type": "synonym"
                },
                {
                    "name": "LOC103690609",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb3l1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RA24-1",
            "evidence": [
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2E8-1",
            "uniprot_ac": "Q9W2E8",
            "uniprot_id": "Q9W2E8_DROME",
            "refseq_ac": "NP_001097399",
            "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 beta subcomplex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "CG10320-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) B12 subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase B12",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase B12 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-B12-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-B12",
                    "type": "recommended"
                },
                {
                    "name": "10320",
                    "type": "synonym"
                },
                {
                    "name": "CG10320",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10320",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10320",
                    "type": "synonym"
                },
                {
                    "name": "NB2M",
                    "type": "synonym"
                },
                {
                    "name": "ND-B12",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB3",
                    "type": "synonym"
                },
                {
                    "name": "Q9W2E8",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey47",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey84",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2E8-1",
            "evidence": [
                {
                    "id": "0112067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112067"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112067"
}