{
    "disease_id": "DOID:0112093",
    "recommended_name": {
        "id": "DOID:0112093",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112093",
        "name": "nuclear type mitochondrial complex I deficiency 3",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112093",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112093",
            "name": "MC1DN3",
            "description": ""
        },
        {
            "id": "MONDO:0032608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032608",
            "name": "mitochondrial complex I deficiency, nuclear type 3",
            "description": ""
        },
        {
            "id": "MONDO:0032608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032608",
            "name": "MC1DN3",
            "description": ""
        },
        {
            "id": "MIM:618224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618224",
            "name": "Mitochondrial complex I deficiency, nuclear type 3",
            "description": "Mitochondrial complex I deficiency, nuclear type 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112093"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112093",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112093",
            "categories": []
        },
        {
            "id": "MONDO:0032608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032608",
            "categories": []
        },
        {
            "id": "MIM:618224",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618224",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHE9-1",
            "uniprot_ac": "F1QHE9",
            "uniprot_id": "F1QHE9_DANRE",
            "refseq_ac": "NP_001186841",
            "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] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-20kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 7, (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufs7",
                    "type": "recommended"
                },
                {
                    "name": "fj19d10",
                    "type": "synonym"
                },
                {
                    "name": "im:7149436",
                    "type": "synonym"
                },
                {
                    "name": "ndufs7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj19d10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHE9-1",
            "evidence": [
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DC70-1",
            "uniprot_ac": "Q9DC70",
            "uniprot_id": "NDUS7_MOUSE",
            "refseq_ac": "NP_083548",
            "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] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-20kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-20kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 7",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-20kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs7",
                    "type": "recommended"
                },
                {
                    "name": "1010001M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "CI-20kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC70-1",
            "evidence": [
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75251-1",
            "uniprot_ac": "O75251",
            "uniprot_id": "NDUS7_HUMAN",
            "refseq_ac": "NP_077718",
            "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] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-20kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-20kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-coenzyme Q reductase",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase PSST subunit",
                    "type": "synonym"
                },
                {
                    "name": "PSST subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 20kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I, mitochondrial respiratory chain, 20-KD subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-20kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS7",
                    "type": "recommended"
                },
                {
                    "name": "CI-20KD",
                    "type": "synonym"
                },
                {
                    "name": "CI-20",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN3",
                    "type": "synonym"
                },
                {
                    "name": "MY017",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS7",
                    "type": "synonym"
                },
                {
                    "name": "PSST",
                    "type": "synonym"
                }
            ],
            "record_id": "O75251-1",
            "evidence": [
                {
                    "id": "618224",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618224"
                },
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7ELE5-1",
            "uniprot_ac": "F7ELE5",
            "uniprot_id": "F7ELE5_RAT",
            "refseq_ac": "",
            "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] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-20kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs7",
                    "type": "recommended"
                }
            ],
            "record_id": "F7ELE5-1",
            "evidence": [
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXK7-1",
            "uniprot_ac": "Q9VXK7",
            "uniprot_id": "Q9VXK7_DROME",
            "refseq_ac": "NP_001285313",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG9172-PC",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0073949",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 20 kDa subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 20 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-UBIQUINONE OXIDOREDUCTASE 20 KDA SUBUNIT",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-20-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-20",
                    "type": "recommended"
                },
                {
                    "name": "20 kDa",
                    "type": "synonym"
                },
                {
                    "name": "CG9172",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9172",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9172",
                    "type": "synonym"
                },
                {
                    "name": "ND-20",
                    "type": "synonym"
                },
                {
                    "name": "ND20",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS7",
                    "type": "synonym"
                },
                {
                    "name": "NUKM",
                    "type": "synonym"
                },
                {
                    "name": "PSST",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS7A",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXK7-1",
            "evidence": [
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAK5-1",
            "uniprot_ac": "Q9VAK5",
            "uniprot_id": "Q9VAK5_DROME",
            "refseq_ac": "NP_001287584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG2014-PB",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 20 kDa subunit-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH: ubiquinone oxidoreductase-like, 20kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-20L-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-20L",
                    "type": "recommended"
                },
                {
                    "name": "CG2014",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2014",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2014",
                    "type": "synonym"
                },
                {
                    "name": "ND-20L",
                    "type": "synonym"
                },
                {
                    "name": "ND20-like",
                    "type": "synonym"
                },
                {
                    "name": "NUKM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS7B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAK5-1",
            "evidence": [
                {
                    "id": "0112093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112093"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112093"
}