{
    "disease_id": "DOID:0112092",
    "recommended_name": {
        "id": "DOID:0112092",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112092",
        "name": "nuclear type mitochondrial complex I deficiency 7",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112092",
            "name": "MC1DN7",
            "description": ""
        },
        {
            "id": "MONDO:0032612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032612",
            "name": "mitochondrial complex I deficiency, nuclear type 7",
            "description": ""
        },
        {
            "id": "MONDO:0032612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032612",
            "name": "MC1DN7",
            "description": ""
        },
        {
            "id": "MIM:618229",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618229",
            "name": "Mitochondrial complex I deficiency, nuclear type 7",
            "description": "Mitochondrial complex I deficiency, nuclear type 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112092"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112092",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112092",
            "categories": []
        },
        {
            "id": "MONDO:0032612",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032612",
            "categories": []
        },
        {
            "id": "MIM:618229",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618229",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D6J6-1",
            "uniprot_ac": "Q9D6J6",
            "uniprot_id": "NDUV2_MOUSE",
            "refseq_ac": "NP_001265344",
            "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] flavoprotein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufv2",
                    "type": "recommended"
                },
                {
                    "name": "2900010C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufv2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6J6-1",
            "evidence": [
                {
                    "id": "0112092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19404-1",
            "uniprot_ac": "P19404",
            "uniprot_id": "NDUV2_HUMAN",
            "refseq_ac": "NP_066552",
            "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] flavoprotein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase flavoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV2",
                    "type": "synonym"
                },
                {
                    "name": "complex I 24kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I, mitochondrial respitory chain, 24 kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFV2",
                    "type": "recommended"
                },
                {
                    "name": "CI-24k",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN7",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV2",
                    "type": "synonym"
                }
            ],
            "record_id": "P19404-1",
            "evidence": [
                {
                    "id": "618229",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618229"
                },
                {
                    "id": "0112092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19234-1",
            "uniprot_ac": "P19234",
            "uniprot_id": "NDUV2_RAT",
            "refseq_ac": "NP_112326",
            "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] flavoprotein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "24-kDa subunit of mitochondrial NADH dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufv2",
                    "type": "recommended"
                },
                {
                    "name": "Ndufv2",
                    "type": "synonym"
                }
            ],
            "record_id": "P19234-1",
            "evidence": [
                {
                    "id": "0112092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VX36-1",
            "uniprot_ac": "Q9VX36",
            "uniprot_id": "Q9VX36_DROME",
            "refseq_ac": "NP_001285378",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5703-PB",
                    "type": "synonym"
                },
                {
                    "name": "COMPLEX I: 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (Ubiquinone) 24 kDa subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (Ubiquinone) 24 kDa subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 24 kDa subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase ubiquinone flavoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 24 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-24-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-24",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LP01573",
                    "type": "synonym"
                },
                {
                    "name": "CG 5703",
                    "type": "synonym"
                },
                {
                    "name": "CG5703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5703",
                    "type": "synonym"
                },
                {
                    "name": "ND-24",
                    "type": "synonym"
                },
                {
                    "name": "ND24",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV2",
                    "type": "synonym"
                },
                {
                    "name": "NUHM",
                    "type": "synonym"
                },
                {
                    "name": "Ndufv2",
                    "type": "synonym"
                },
                {
                    "name": "Q9VX36",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV2A",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VX36-1",
            "evidence": [
                {
                    "id": "0112092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVF0-1",
            "uniprot_ac": "Q9VVF0",
            "uniprot_id": "Q9VVF0_DROME",
            "refseq_ac": "NP_648965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6485-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (Ubiquinone) 24 kDa subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 24 kDa subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 24 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-24L-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-24L",
                    "type": "recommended"
                },
                {
                    "name": "CG6485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6485",
                    "type": "synonym"
                },
                {
                    "name": "ND-24L",
                    "type": "synonym"
                },
                {
                    "name": "NUHM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVF0-1",
            "evidence": [
                {
                    "id": "0112092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112092"
}