{
    "disease_id": "DOID:0112076",
    "recommended_name": {
        "id": "DOID:0112076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112076",
        "name": "nuclear type mitochondrial complex I deficiency 13",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112076",
            "name": "MC1DN13",
            "description": ""
        },
        {
            "id": "MONDO:0032618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032618",
            "name": "mitochondrial complex I deficiency, nuclear type 13",
            "description": ""
        },
        {
            "id": "MONDO:0032618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032618",
            "name": "MC1DN13",
            "description": ""
        },
        {
            "id": "MIM:618235",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618235",
            "name": "Mitochondrial complex I deficiency, nuclear type 13",
            "description": "Mitochondrial complex I deficiency, nuclear type 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112076",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112076",
            "categories": []
        },
        {
            "id": "MONDO:0032618",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032618",
            "categories": []
        },
        {
            "id": "MIM:618235",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618235",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQ75-1",
            "uniprot_ac": "Q9CQ75",
            "uniprot_id": "NDUA2_MOUSE",
            "refseq_ac": "NP_035015",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "CI-B8",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B8 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa2",
                    "type": "recommended"
                },
                {
                    "name": "B8",
                    "type": "synonym"
                },
                {
                    "name": "C1-B8",
                    "type": "synonym"
                },
                {
                    "name": "CI-B8",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ75-1",
            "evidence": [
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64526-1",
            "uniprot_ac": "Q64526",
            "uniprot_id": "Q64526_MOUSE",
            "refseq_ac": "NP_056556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin associated protein 9-1",
                    "type": "synonym"
                },
                {
                    "name": "keratin associated protein 9-1",
                    "type": "synonym"
                },
                {
                    "name": "keratin-associated protein 9.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krtap9-1",
                    "type": "recommended"
                },
                {
                    "name": "Krtap9-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64526-1",
            "evidence": [
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43678-1",
            "uniprot_ac": "O43678",
            "uniprot_id": "NDUA2_HUMAN",
            "refseq_ac": "NP_001171941",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "CI-B8",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B8 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase subunit CI-B8",
                    "type": "synonym"
                },
                {
                    "name": "complex I B8 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA2",
                    "type": "recommended"
                },
                {
                    "name": "B8",
                    "type": "synonym"
                },
                {
                    "name": "CIB8",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN13",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43678-1",
            "evidence": [
                {
                    "id": "618235",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618235"
                },
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZS58-1",
            "uniprot_ac": "D3ZS58",
            "uniprot_id": "D3ZS58_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": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZS58-1",
            "evidence": [
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZI75-1",
            "uniprot_ac": "D3ZI75",
            "uniprot_id": "D3ZI75_RAT",
            "refseq_ac": "XP_063137049",
            "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 alpha subcomplex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC120099907",
                    "type": "recommended"
                },
                {
                    "name": "LOC120099907",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZI75-1",
            "evidence": [
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR00-1",
            "uniprot_ac": "Q9VR00",
            "uniprot_id": "Q9VR00_DROME",
            "refseq_ac": "NP_652341",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "CG15434-PA",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) B8 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase B8",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B8 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase B8 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-B8-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-B8",
                    "type": "recommended"
                },
                {
                    "name": "CG15434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15434",
                    "type": "synonym"
                },
                {
                    "name": "ND-B8",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA2",
                    "type": "synonym"
                },
                {
                    "name": "NI8M",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR00-1",
            "evidence": [
                {
                    "id": "0112076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112076"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112076"
}