{
    "disease_id": "DOID:0112082",
    "recommended_name": {
        "id": "DOID:0112082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112082",
        "name": "nuclear type mitochondrial complex I deficiency 4",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112082",
            "name": "MC1DN4",
            "description": ""
        },
        {
            "id": "MONDO:0032609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032609",
            "name": "mitochondrial complex I deficiency, nuclear type 4",
            "description": ""
        },
        {
            "id": "MONDO:0032609",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032609",
            "name": "MC1DN4",
            "description": ""
        },
        {
            "id": "MIM:618225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618225",
            "name": "Mitochondrial complex I deficiency, nuclear type 4",
            "description": "Mitochondrial complex I deficiency, nuclear type 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112082",
            "categories": []
        },
        {
            "id": "MONDO:0032609",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032609",
            "categories": []
        },
        {
            "id": "MIM:618225",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618225",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91YT0-1",
            "uniprot_ac": "Q91YT0",
            "uniprot_id": "NDUV1_MOUSE",
            "refseq_ac": "NP_598427",
            "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 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "24 kDa (FP)",
                    "type": "synonym"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-51kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-51kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase flavoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV1",
                    "type": "synonym"
                },
                {
                    "name": "complex I-51kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufv1",
                    "type": "recommended"
                },
                {
                    "name": "CI-51kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YT0-1",
            "evidence": [
                {
                    "id": "0112082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49821-1",
            "uniprot_ac": "P49821",
            "uniprot_id": "NDUV1_HUMAN",
            "refseq_ac": "NP_001159574",
            "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 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-51kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-51kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase flavoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV1",
                    "type": "synonym"
                },
                {
                    "name": "complex I 51 kda subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 51kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I, mitochondrial respiratory chain",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFV1",
                    "type": "recommended"
                },
                {
                    "name": "CI-51K",
                    "type": "synonym"
                },
                {
                    "name": "CI51KD",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN4",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV1",
                    "type": "synonym"
                },
                {
                    "name": "UQOR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49821-1",
            "evidence": [
                {
                    "id": "618225",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618225"
                },
                {
                    "id": "0112082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIH3-1",
            "uniprot_ac": "Q5XIH3",
            "uniprot_id": "Q5XIH3_RAT",
            "refseq_ac": "NP_001006973",
            "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 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufv1",
                    "type": "recommended"
                },
                {
                    "name": "Ndufv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIH3-1",
            "evidence": [
                {
                    "id": "0112082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAW7-1",
            "uniprot_ac": "A1ZAW7",
            "uniprot_id": "A1ZAW7_DROME",
            "refseq_ac": "NP_611238",
            "glycoprotein": "yes",
            "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] flavoprotein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG11423-PA",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-51kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 51 kDa subunit-like 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-UBIQUINONE OXIDOREDUCTASE 51 KDA SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-51L1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-51L1",
                    "type": "recommended"
                },
                {
                    "name": "CG11423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11423",
                    "type": "synonym"
                },
                {
                    "name": "ND-51L1",
                    "type": "synonym"
                },
                {
                    "name": "ND51L1",
                    "type": "synonym"
                },
                {
                    "name": "NUBM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV1B",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAW7-1",
            "evidence": [
                {
                    "id": "0112082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMI3-1",
            "uniprot_ac": "Q9VMI3",
            "uniprot_id": "Q9VMI3_DROME",
            "refseq_ac": "NP_001285657",
            "glycoprotein": "yes",
            "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] flavoprotein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(ubiquinone) 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG9140-PB",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0078847",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 51 kDa subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 51 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-UBIQUINONE OXIDOREDUCTASE 51 KDA SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 51 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase, 51kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-51-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-51",
                    "type": "recommended"
                },
                {
                    "name": "CG9140",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9140",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9140",
                    "type": "synonym"
                },
                {
                    "name": "ND-51",
                    "type": "synonym"
                },
                {
                    "name": "ND51",
                    "type": "synonym"
                },
                {
                    "name": "NDUFV1",
                    "type": "synonym"
                },
                {
                    "name": "NUBM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV1A",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFV1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMI3-1",
            "evidence": [
                {
                    "id": "0112082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112082"
}