{
    "disease_id": "DOID:0112075",
    "recommended_name": {
        "id": "DOID:0112075",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112075",
        "name": "nuclear type mitochondrial complex I deficiency 10",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112075",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112075",
            "name": "MC1DN10",
            "description": ""
        },
        {
            "id": "MONDO:0032616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032616",
            "name": "mitochondrial complex I deficiency, nuclear type 10",
            "description": ""
        },
        {
            "id": "MONDO:0032616",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032616",
            "name": "MC1DN10",
            "description": ""
        },
        {
            "id": "MIM:618233",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618233",
            "name": "Mitochondrial complex I deficiency, nuclear type 10",
            "description": "Mitochondrial complex I deficiency, nuclear type 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112075"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112075",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112075",
            "categories": []
        },
        {
            "id": "MONDO:0032616",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032616",
            "categories": []
        },
        {
            "id": "MIM:618233",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618233",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A9C3R5-1",
            "uniprot_ac": "A9C3R5",
            "uniprot_id": "A9C3R5_DANRE",
            "refseq_ac": "NP_001107122",
            "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 12, like",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf2",
                    "type": "recommended"
                },
                {
                    "name": "ndufa12l",
                    "type": "synonym"
                },
                {
                    "name": "ndufaf2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101036",
                    "type": "synonym"
                }
            ],
            "record_id": "A9C3R5-1",
            "evidence": [
                {
                    "id": "0112075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q59J78-1",
            "uniprot_ac": "Q59J78",
            "uniprot_id": "NDUF2_MOUSE",
            "refseq_ac": "NP_001120818",
            "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 assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "MMTN",
                    "type": "synonym"
                },
                {
                    "name": "Mimitin",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced mitochondria protein",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA12-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mimitin, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "myc-induced mitochondrial protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf2",
                    "type": "recommended"
                },
                {
                    "name": "1810058I14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa12l",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf2",
                    "type": "synonym"
                },
                {
                    "name": "mimitin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q59J78-1",
            "evidence": [
                {
                    "id": "0112075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N183-1",
            "uniprot_ac": "Q8N183",
            "uniprot_id": "NDUF2_HUMAN",
            "refseq_ac": "NP_777549",
            "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 assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "B17.2-like",
                    "type": "synonym"
                },
                {
                    "name": "B17.2L",
                    "type": "synonym"
                },
                {
                    "name": "MMTN",
                    "type": "synonym"
                },
                {
                    "name": "Mimitin",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase 1 alpha subcomplex assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA12-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mimitin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF2",
                    "type": "recommended"
                },
                {
                    "name": "B17.2L",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN10",
                    "type": "synonym"
                },
                {
                    "name": "MMTN",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA12L",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF2",
                    "type": "synonym"
                },
                {
                    "name": "mimitin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N183-1",
            "evidence": [
                {
                    "id": "618233",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618233"
                },
                {
                    "id": "0112075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZF6-1",
            "uniprot_ac": "A0A0G2JZF6",
            "uniprot_id": "A0A0G2JZF6_RAT",
            "refseq_ac": "NP_001385981",
            "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, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "mimitin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf2",
                    "type": "recommended"
                },
                {
                    "name": "Ndufa12l",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560158",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZF6-1",
            "evidence": [
                {
                    "id": "0112075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112075"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9NEW0-1",
            "uniprot_ac": "M9NEW0",
            "uniprot_id": "M9NEW0_DROME",
            "refseq_ac": "NP_001246121",
            "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 assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "CG43346-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG43346",
                    "type": "recommended"
                },
                {
                    "name": "CG43346",
                    "type": "synonym"
                },
                {
                    "name": "CG9243",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43346",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43346",
                    "type": "synonym"
                }
            ],
            "record_id": "M9NEW0-1",
            "evidence": [
                {
                    "id": "0112075",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112075"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112075"
}