{
    "disease_id": "DOID:0112074",
    "recommended_name": {
        "id": "DOID:0112074",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112074",
        "name": "nuclear type mitochondrial complex I deficiency 1",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112074",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112074",
            "name": "MC1DN1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "MC1DN1",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "NADH-coenzyme Q reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "NADH:Q(1) oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial NADH dehydrogenase component of Complex I, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0100224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "name": "mitochondrial complex I deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MIM:252010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252010",
            "name": "Mitochondrial complex I deficiency, nuclear type 1",
            "description": "Mitochondrial complex I deficiency, nuclear type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112074"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112074",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112074",
            "categories": []
        },
        {
            "id": "MONDO:0100224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100224",
            "categories": []
        },
        {
            "id": "MIM:252010",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252010",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502E4-1",
            "uniprot_ac": "Q502E4",
            "uniprot_id": "Q502E4_DANRE",
            "refseq_ac": "NP_001018512",
            "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 4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufs4",
                    "type": "recommended"
                },
                {
                    "name": "ndufs4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112289",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502E4-1",
            "evidence": [
                {
                    "id": "0112074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXZ1-1",
            "uniprot_ac": "Q9CXZ1",
            "uniprot_id": "NDUS4_MOUSE",
            "refseq_ac": "NP_035017",
            "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 4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "CI-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "complex I-AQDQ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs4",
                    "type": "recommended"
                },
                {
                    "name": "6720411N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "C1-18k",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXZ1-1",
            "evidence": [
                {
                    "id": "0112074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43181-1",
            "uniprot_ac": "O43181",
            "uniprot_id": "NDUS4_HUMAN",
            "refseq_ac": "NP_002486",
            "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 4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "CI-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 18kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial respiratory chain complex I (18-KD subunit)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS4",
                    "type": "recommended"
                },
                {
                    "name": "AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "CI-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "CI-18",
                    "type": "synonym"
                },
                {
                    "name": "CI-AQDQ",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN1",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS4",
                    "type": "synonym"
                }
            ],
            "record_id": "O43181-1",
            "evidence": [
                {
                    "id": "252010",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252010"
                },
                {
                    "id": "0112074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIF3-1",
            "uniprot_ac": "Q5XIF3",
            "uniprot_id": "NDUS4_RAT",
            "refseq_ac": "NP_001020317",
            "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] iron-sulfur protein 4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-18 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs4",
                    "type": "recommended"
                },
                {
                    "name": "Aqdq",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIF3-1",
            "evidence": [
                {
                    "id": "0112074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112074"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWI0-1",
            "uniprot_ac": "Q9VWI0",
            "uniprot_id": "NDUS4_DROME",
            "refseq_ac": "NP_573385",
            "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] iron-sulfur protein 4, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG12203-PA",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0074481",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 18 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-18-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-18",
                    "type": "recommended"
                },
                {
                    "name": "CG12203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12203",
                    "type": "synonym"
                },
                {
                    "name": "IP11020p",
                    "type": "synonym"
                },
                {
                    "name": "ND-18",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS4",
                    "type": "synonym"
                },
                {
                    "name": "NUYM",
                    "type": "synonym"
                },
                {
                    "name": "Q9VWI0",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWI0-1",
            "evidence": [
                {
                    "id": "0112074",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112074"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112074"
}