{
    "disease_id": "DOID:0112099",
    "recommended_name": {
        "id": "DOID:0112099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112099",
        "name": "nuclear type mitochondrial complex I deficiency 12",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0112099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112099",
            "name": "MC1DN12",
            "description": ""
        },
        {
            "id": "MONDO:0026720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026720",
            "name": "mitochondrial complex I deficiency, nuclear type 12",
            "description": ""
        },
        {
            "id": "MONDO:0026720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026720",
            "name": "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026720",
            "name": "MC1DN12",
            "description": ""
        },
        {
            "id": "MIM:301020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301020",
            "name": "Mitochondrial complex I deficiency, nuclear type 12",
            "description": "Mitochondrial complex I deficiency, nuclear type 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112099"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112099",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112099",
            "categories": []
        },
        {
            "id": "MONDO:0026720",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026720",
            "categories": []
        },
        {
            "id": "MIM:301020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QQ42-1",
            "uniprot_ac": "F1QQ42",
            "uniprot_id": "F1QQ42_DANRE",
            "refseq_ac": "NP_001002153",
            "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] 1 alpha subcomplex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase MWFE subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufa1",
                    "type": "recommended"
                },
                {
                    "name": "ndufa1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86674",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QQ42-1",
            "evidence": [
                {
                    "id": "0112099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35683-1",
            "uniprot_ac": "O35683",
            "uniprot_id": "NDUA1_MOUSE",
            "refseq_ac": "NP_062316",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CI-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase 1 alpha subcomplex, 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase subunit MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase MWFE subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-MWFE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa1",
                    "type": "recommended"
                },
                {
                    "name": "1810049F12Rik",
                    "type": "synonym"
                },
                {
                    "name": "MWFE",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35683-1",
            "evidence": [
                {
                    "id": "0112099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15239-1",
            "uniprot_ac": "O15239",
            "uniprot_id": "NDUA1_HUMAN",
            "refseq_ac": "NP_004532",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CI-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase MWFE subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase (complex 1)",
                    "type": "synonym"
                },
                {
                    "name": "complex I MWFE subunit",
                    "type": "synonym"
                },
                {
                    "name": "type I dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA1",
                    "type": "recommended"
                },
                {
                    "name": "CI-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN12",
                    "type": "synonym"
                },
                {
                    "name": "MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA1",
                    "type": "synonym"
                },
                {
                    "name": "ZNF183",
                    "type": "synonym"
                }
            ],
            "record_id": "O15239-1",
            "evidence": [
                {
                    "id": "301020",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301020"
                },
                {
                    "id": "0112099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63630-1",
            "uniprot_ac": "Q63630",
            "uniprot_id": "RHOX5_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": "Homeobox protein Rhox5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Pem",
                    "type": "synonym"
                },
                {
                    "name": "Placenta and embryonic expression protein",
                    "type": "synonym"
                },
                {
                    "name": "Reproductive homeobox on chromosome X 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa1",
                    "type": "recommended"
                },
                {
                    "name": "Rhox5",
                    "type": "recommended"
                },
                {
                    "name": "Rnf113a1",
                    "type": "recommended"
                },
                {
                    "name": "Pem",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63630-1",
            "evidence": [
                {
                    "id": "0112099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYC4-1",
            "uniprot_ac": "A8DYC4",
            "uniprot_id": "A8DYC4_DROME",
            "refseq_ac": "NP_001097297",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CG34439-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) MWFE subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase MWFE subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-MWFE-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) c00093",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-MWFE",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH49308",
                    "type": "synonym"
                },
                {
                    "name": "CG13328",
                    "type": "synonym"
                },
                {
                    "name": "CG17054",
                    "type": "synonym"
                },
                {
                    "name": "CG30057",
                    "type": "synonym"
                },
                {
                    "name": "CG34439",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34439",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34439",
                    "type": "synonym"
                },
                {
                    "name": "ND-MWFE",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA1",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)c00093",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYC4-1",
            "evidence": [
                {
                    "id": "0112099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112099"
}