{
    "disease_id": "DOID:0112087",
    "recommended_name": {
        "id": "DOID:0112087",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112087",
        "name": "nuclear type mitochondrial complex I deficiency 23",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22."
    },
    "synonyms": [
        {
            "id": "DOID:0112087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112087",
            "name": "MC1DN23",
            "description": ""
        },
        {
            "id": "MONDO:0032627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032627",
            "name": "mitochondrial complex I deficiency, nuclear type 23",
            "description": ""
        },
        {
            "id": "MONDO:0032627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032627",
            "name": "MC1DN23",
            "description": ""
        },
        {
            "id": "MIM:618244",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618244",
            "name": "Mitochondrial complex I deficiency, nuclear type 23",
            "description": "Mitochondrial complex I deficiency, nuclear type 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112087"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112087",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112087",
            "categories": []
        },
        {
            "id": "MONDO:0032627",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032627",
            "categories": []
        },
        {
            "id": "MIM:618244",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618244",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TMF3-1",
            "uniprot_ac": "Q7TMF3",
            "uniprot_id": "NDUAC_MOUSE",
            "refseq_ac": "",
            "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 alpha subcomplex subunit 12",
                    "type": "recommended"
                },
                {
                    "name": "CI-B17.2",
                    "type": "synonym"
                },
                {
                    "name": "CIB17.2",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B17.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase subunit B17.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa12",
                    "type": "recommended"
                }
            ],
            "record_id": "Q7TMF3-1",
            "evidence": [
                {
                    "id": "0112087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI09-1",
            "uniprot_ac": "Q9UI09",
            "uniprot_id": "NDUAC_HUMAN",
            "refseq_ac": "NP_001245267",
            "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] 1 alpha subcomplex subunit 12",
                    "type": "recommended"
                },
                {
                    "name": "13 kDa differentiation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "CI-B17.2",
                    "type": "synonym"
                },
                {
                    "name": "CIB17.2",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B17.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase subunit B17.2",
                    "type": "synonym"
                },
                {
                    "name": "complex I B17.2 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA12",
                    "type": "recommended"
                },
                {
                    "name": "B17.2",
                    "type": "synonym"
                },
                {
                    "name": "DAP13",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN23",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI09-1",
            "evidence": [
                {
                    "id": "618244",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618244"
                },
                {
                    "id": "0112087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LXA0-1",
            "uniprot_ac": "F1LXA0",
            "uniprot_id": "F1LXA0_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] 1 alpha subcomplex subunit 12",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa12",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LXA0-1",
            "evidence": [
                {
                    "id": "0112087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQD7-1",
            "uniprot_ac": "Q9VQD7",
            "uniprot_id": "Q9VQD7_DROME",
            "refseq_ac": "NP_001137770",
            "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 subunit 12",
                    "type": "recommended"
                },
                {
                    "name": "CG3214-PB",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0077425",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) B17.2 subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase B17.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase subunit B17.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase B17.2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-B17.2-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-B17.2",
                    "type": "recommended"
                },
                {
                    "name": "B17.2",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH12382",
                    "type": "synonym"
                },
                {
                    "name": "CG3214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3214",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3214",
                    "type": "synonym"
                },
                {
                    "name": "N7BM",
                    "type": "synonym"
                },
                {
                    "name": "ND-B17.2",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA12",
                    "type": "synonym"
                },
                {
                    "name": "Q9VQD7",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey62",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQD7-1",
            "evidence": [
                {
                    "id": "0112087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112087"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112087"
}