{
    "disease_id": "DOID:0112079",
    "recommended_name": {
        "id": "DOID:0112079",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112079",
        "name": "nuclear type mitochondrial complex I deficiency 24",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13."
    },
    "synonyms": [
        {
            "id": "DOID:0112079",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112079",
            "name": "MC1DN24",
            "description": ""
        },
        {
            "id": "MONDO:0032628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032628",
            "name": "mitochondrial complex I deficiency, nuclear type 24",
            "description": ""
        },
        {
            "id": "MONDO:0032628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032628",
            "name": "MC1DN24",
            "description": ""
        },
        {
            "id": "MIM:618245",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618245",
            "name": "Mitochondrial complex I deficiency, nuclear type 24",
            "description": "Mitochondrial complex I deficiency, nuclear type 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112079"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112079",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112079",
            "categories": []
        },
        {
            "id": "MONDO:0032628",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032628",
            "categories": []
        },
        {
            "id": "MIM:618245",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618245",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQJ8-1",
            "uniprot_ac": "Q9CQJ8",
            "uniprot_id": "NDUB9_MOUSE",
            "refseq_ac": "NP_075661",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "CI-B22",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B22",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B22 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb9",
                    "type": "recommended"
                },
                {
                    "name": "1190008J14Rik",
                    "type": "synonym"
                },
                {
                    "name": "CI-B22",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQJ8-1",
            "evidence": [
                {
                    "id": "0112079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6M9-1",
            "uniprot_ac": "Q9Y6M9",
            "uniprot_id": "NDUB9_HUMAN",
            "refseq_ac": "NP_001298097",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "CI-B22",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B22",
                    "type": "synonym"
                },
                {
                    "name": "LYR motif-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B22 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I B22 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFB9",
                    "type": "recommended"
                },
                {
                    "name": "B22",
                    "type": "synonym"
                },
                {
                    "name": "CI-B22",
                    "type": "synonym"
                },
                {
                    "name": "LYRM3",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN24",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB9",
                    "type": "synonym"
                },
                {
                    "name": "UQOR22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6M9-1",
            "evidence": [
                {
                    "id": "618245",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618245"
                },
                {
                    "id": "0112079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJZ4-1",
            "uniprot_ac": "Q9VJZ4",
            "uniprot_id": "Q9VJZ4_DROME",
            "refseq_ac": "NP_001285889",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "CG9306-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B22",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) B22 subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase B22",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B22 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase B22 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-B22-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-B22",
                    "type": "recommended"
                },
                {
                    "name": "CG9306",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9306",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9306",
                    "type": "synonym"
                },
                {
                    "name": "ND-B22",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB9",
                    "type": "synonym"
                },
                {
                    "name": "NI2M",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb9",
                    "type": "synonym"
                },
                {
                    "name": "Q9VJZ4",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFB9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJZ4-1",
            "evidence": [
                {
                    "id": "0112079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112079"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112079"
}