{
    "disease_id": "DOID:0112068",
    "recommended_name": {
        "id": "DOID:0112068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112068",
        "name": "nuclear type mitochondrial complex I deficiency 5",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112068",
            "name": "MC1DN5",
            "description": ""
        },
        {
            "id": "MONDO:0032610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032610",
            "name": "mitochondrial complex I deficiency, nuclear type 5",
            "description": ""
        },
        {
            "id": "MONDO:0032610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032610",
            "name": "MC1DN5",
            "description": ""
        },
        {
            "id": "MIM:618226",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618226",
            "name": "Mitochondrial complex I deficiency, nuclear type 5",
            "description": "Mitochondrial complex I deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112068",
            "categories": []
        },
        {
            "id": "MONDO:0032610",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032610",
            "categories": []
        },
        {
            "id": "MIM:618226",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618226",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91VD9-1",
            "uniprot_ac": "Q91VD9",
            "uniprot_id": "NDUS1_MOUSE",
            "refseq_ac": "NP_001153510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-75kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-75kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "complex I-75kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs1",
                    "type": "recommended"
                },
                {
                    "name": "5830412M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "9930026A05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VD9-1",
            "evidence": [
                {
                    "id": "0112068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28331-1",
            "uniprot_ac": "P28331",
            "uniprot_id": "NDUS1_HUMAN",
            "refseq_ac": "NP_001186910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CI-75kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-75kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complex I 75kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I, mitochondrial respiratory chain, 75-kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS1",
                    "type": "recommended"
                },
                {
                    "name": "CI-75Kd",
                    "type": "synonym"
                },
                {
                    "name": "CI-75k",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN5",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1304",
                    "type": "synonym"
                }
            ],
            "record_id": "P28331-1",
            "evidence": [
                {
                    "id": "618226",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618226"
                },
                {
                    "id": "0112068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HF1-1",
            "uniprot_ac": "Q66HF1",
            "uniprot_id": "NDUS1_RAT",
            "refseq_ac": "NP_001005550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs1",
                    "type": "recommended"
                },
                {
                    "name": "Ndufs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HF1-1",
            "evidence": [
                {
                    "id": "0112068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94511-1",
            "uniprot_ac": "Q94511",
            "uniprot_id": "NDUS1_DROME",
            "refseq_ac": "NP_511083",
            "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-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG2286-PA",
                    "type": "synonym"
                },
                {
                    "name": "CI-75kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-75kD",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0071128",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 75 kDa subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 75 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 75 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 75 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 75 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 75-kD subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 75kD subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "ND-75-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-75",
                    "type": "recommended"
                },
                {
                    "name": "CG2286",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2286",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2286",
                    "type": "synonym"
                },
                {
                    "name": "ND-75",
                    "type": "synonym"
                },
                {
                    "name": "ND75",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS1",
                    "type": "synonym"
                },
                {
                    "name": "NDUS1",
                    "type": "synonym"
                },
                {
                    "name": "NUAM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94511-1",
            "evidence": [
                {
                    "id": "0112068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112068"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112068"
}