{
    "disease_id": "DOID:0112086",
    "recommended_name": {
        "id": "DOID:0112086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112086",
        "name": "nuclear type mitochondrial complex I deficiency 26",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0112086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112086",
            "name": "MC1DN26",
            "description": ""
        },
        {
            "id": "MONDO:0032630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032630",
            "name": "mitochondrial complex I deficiency, nuclear type 26",
            "description": ""
        },
        {
            "id": "MONDO:0032630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032630",
            "name": "MC1DN26",
            "description": ""
        },
        {
            "id": "MIM:618247",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618247",
            "name": "Mitochondrial complex I deficiency, nuclear type 26",
            "description": "Mitochondrial complex I deficiency, nuclear type 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112086"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112086",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112086",
            "categories": []
        },
        {
            "id": "MONDO:0032630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032630",
            "categories": []
        },
        {
            "id": "MIM:618247",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618247",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NP87-1",
            "uniprot_ac": "F6NP87",
            "uniprot_id": "F6NP87_DANRE",
            "refseq_ac": "NP_001013477",
            "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 9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9a",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufa9a",
                    "type": "recommended"
                },
                {
                    "name": "ndufa9a",
                    "type": "synonym"
                },
                {
                    "name": "ndufa9",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc41f12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112513",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NP87-1",
            "evidence": [
                {
                    "id": "0112086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DC69-1",
            "uniprot_ac": "Q9DC69",
            "uniprot_id": "NDUA9_MOUSE",
            "refseq_ac": "NP_079634",
            "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 9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-39kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-39kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa9",
                    "type": "recommended"
                },
                {
                    "name": "1010001N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC69-1",
            "evidence": [
                {
                    "id": "0112086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16795-1",
            "uniprot_ac": "Q16795",
            "uniprot_id": "NDUA9_HUMAN",
            "refseq_ac": "NP_004993",
            "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 9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-39kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 39kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 22E, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA9",
                    "type": "recommended"
                },
                {
                    "name": "CC6",
                    "type": "synonym"
                },
                {
                    "name": "CI-39k",
                    "type": "synonym"
                },
                {
                    "name": "CI39k",
                    "type": "synonym"
                },
                {
                    "name": "COQ11",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN26",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA9",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS2L",
                    "type": "synonym"
                },
                {
                    "name": "SDR22E1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16795-1",
            "evidence": [
                {
                    "id": "618247",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618247"
                },
                {
                    "id": "0112086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK63-1",
            "uniprot_ac": "Q5BK63",
            "uniprot_id": "NDUA9_RAT",
            "refseq_ac": "NP_001094222",
            "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 9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-39kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sperm flagella protein 3",
                    "type": "synonym"
                },
                {
                    "name": "complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagella protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa9",
                    "type": "recommended"
                },
                {
                    "name": "Ndufa9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK63-1",
            "evidence": [
                {
                    "id": "0112086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPE2-1",
            "uniprot_ac": "Q9VPE2",
            "uniprot_id": "Q9VPE2_DROME",
            "refseq_ac": "NP_001262116",
            "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 9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG6020-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-39kD",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0077859",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 39 kDa subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 39 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-39-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-39",
                    "type": "recommended"
                },
                {
                    "name": "CG6020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6020",
                    "type": "synonym"
                },
                {
                    "name": "GM13757p",
                    "type": "synonym"
                },
                {
                    "name": "ND-39",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA9",
                    "type": "synonym"
                },
                {
                    "name": "NUEM",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa9",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPE2-1",
            "evidence": [
                {
                    "id": "0112086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112086"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112086"
}