{
    "disease_id": "DOID:0112080",
    "recommended_name": {
        "id": "DOID:0112080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112080",
        "name": "nuclear type mitochondrial complex I deficiency 32",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112080",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112080",
            "name": "MC1DN32",
            "description": ""
        },
        {
            "id": "MONDO:0032635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032635",
            "name": "mitochondrial complex I deficiency, nuclear type 32",
            "description": ""
        },
        {
            "id": "MONDO:0032635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032635",
            "name": "MC1DN32",
            "description": ""
        },
        {
            "id": "MIM:618252",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618252",
            "name": "Mitochondrial complex I deficiency, nuclear type 32",
            "description": "Mitochondrial complex I deficiency, nuclear type 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112080",
            "categories": []
        },
        {
            "id": "MONDO:0032635",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032635",
            "categories": []
        },
        {
            "id": "MIM:618252",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618252",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D6J5-1",
            "uniprot_ac": "Q9D6J5",
            "uniprot_id": "NDUB8_MOUSE",
            "refseq_ac": "NP_080337",
            "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 beta subcomplex subunit 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex 8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-ASHI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb8",
                    "type": "recommended"
                },
                {
                    "name": "2900010I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "CI-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6J5-1",
            "evidence": [
                {
                    "id": "0112080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95169-1",
            "uniprot_ac": "O95169",
            "uniprot_id": "NDUB8_HUMAN",
            "refseq_ac": "NP_001271296",
            "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 beta subcomplex subunit 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-ASHI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFB8",
                    "type": "recommended"
                },
                {
                    "name": "ASHI",
                    "type": "synonym"
                },
                {
                    "name": "CI-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN32",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB8",
                    "type": "synonym"
                }
            ],
            "record_id": "O95169-1",
            "evidence": [
                {
                    "id": "618252",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618252"
                },
                {
                    "id": "0112080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3X7-1",
            "uniprot_ac": "Q9W3X7",
            "uniprot_id": "Q9W3X7_DROME",
            "refseq_ac": "NP_001027048",
            "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 beta subcomplex subunit 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG3192-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) ASHI subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase ASHI",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase ASHI subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-ASHI-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-ASHI",
                    "type": "recommended"
                },
                {
                    "name": "CG3192",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3192",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3192",
                    "type": "synonym"
                },
                {
                    "name": "ND-ASHI",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB8",
                    "type": "synonym"
                },
                {
                    "name": "NIAM",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb8",
                    "type": "synonym"
                },
                {
                    "name": "Q9W3X7",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFB8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3X7-1",
            "evidence": [
                {
                    "id": "0112080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112080"
}