{
    "disease_id": "DOID:0112095",
    "recommended_name": {
        "id": "DOID:0112095",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112095",
        "name": "nuclear type mitochondrial complex I deficiency 28",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0112095",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112095",
            "name": "MC1DN28",
            "description": ""
        },
        {
            "id": "MONDO:0032632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032632",
            "name": "mitochondrial complex I deficiency, nuclear type 28",
            "description": ""
        },
        {
            "id": "MONDO:0032632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032632",
            "name": "MC1DN28",
            "description": ""
        },
        {
            "id": "MIM:618249",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618249",
            "name": "Mitochondrial complex I deficiency, nuclear type 28",
            "description": "Mitochondrial complex I deficiency, nuclear type 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112095"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112095",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112095",
            "categories": []
        },
        {
            "id": "MONDO:0032632",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032632",
            "categories": []
        },
        {
            "id": "MIM:618249",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618249",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ERS2-1",
            "uniprot_ac": "Q9ERS2",
            "uniprot_id": "NDUAD_MOUSE",
            "refseq_ac": "NP_075801",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "CI-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "Cell death regulatory protein GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "Gene associated with retinoic and IFN-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "Gene associated with retinoic and interferon-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B16.6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell death regulatory protein GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoic and IFN-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoic and interferon-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoic-interferon-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "genes associated with retinoid-IFN-induced mortality 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa13",
                    "type": "recommended"
                },
                {
                    "name": "2700054G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDA016",
                    "type": "synonym"
                },
                {
                    "name": "CGI-39",
                    "type": "synonym"
                },
                {
                    "name": "CI-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "Grim19",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERS2-1",
            "evidence": [
                {
                    "id": "0112095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0J0-1",
            "uniprot_ac": "Q9P0J0",
            "uniprot_id": "NDUAD_HUMAN",
            "refseq_ac": "NP_057049",
            "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 alpha subcomplex subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "CI-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "Cell death regulatory protein GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "Gene associated with retinoic and IFN-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "Gene associated with retinoic and interferon-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B16.6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell death regulatory protein GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "cell death-regulatory protein GRIM19",
                    "type": "synonym"
                },
                {
                    "name": "complex I B16.6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoic and IFN-induced mortality 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "gene associated with retinoic and interferon-induced mortality 19 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA13",
                    "type": "recommended"
                },
                {
                    "name": "B16.6",
                    "type": "synonym"
                },
                {
                    "name": "CDA016",
                    "type": "synonym"
                },
                {
                    "name": "CGI-39",
                    "type": "synonym"
                },
                {
                    "name": "GRIM-19",
                    "type": "synonym"
                },
                {
                    "name": "GRIM19",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN28",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0J0-1",
            "evidence": [
                {
                    "id": "618249",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618249"
                },
                {
                    "id": "0112095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZE15-1",
            "uniprot_ac": "D3ZE15",
            "uniprot_id": "D3ZE15_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 13",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa13",
                    "type": "recommended"
                },
                {
                    "name": "Yjefn3",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZE15-1",
            "evidence": [
                {
                    "id": "0112095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W402-1",
            "uniprot_ac": "Q9W402",
            "uniprot_id": "Q9W402_DROME",
            "refseq_ac": "NP_001284943",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "CG3446-PB",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) B16.6 subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase B16.6",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B16.6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase B16.6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-B16.6-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-B16.6",
                    "type": "recommended"
                },
                {
                    "name": "CG3446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3446",
                    "type": "synonym"
                },
                {
                    "name": "NB6M",
                    "type": "synonym"
                },
                {
                    "name": "ND-B16.6",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA13",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W402-1",
            "evidence": [
                {
                    "id": "0112095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112095"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112095"
}