{
    "disease_id": "DOID:0112073",
    "recommended_name": {
        "id": "DOID:0112073",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112073",
        "name": "nuclear type mitochondrial complex I deficiency 9",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33."
    },
    "synonyms": [
        {
            "id": "DOID:0112073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112073",
            "name": "MC1DN9",
            "description": ""
        },
        {
            "id": "MONDO:0032615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032615",
            "name": "mitochondrial complex I deficiency, nuclear type 9",
            "description": ""
        },
        {
            "id": "MONDO:0032615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032615",
            "name": "MC1DN9",
            "description": ""
        },
        {
            "id": "MIM:618232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618232",
            "name": "Mitochondrial complex I deficiency, nuclear type 9",
            "description": "Mitochondrial complex I deficiency, nuclear type 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112073"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112073",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112073",
            "categories": []
        },
        {
            "id": "MONDO:0032615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032615",
            "categories": []
        },
        {
            "id": "MIM:618232",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618232",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52503-1",
            "uniprot_ac": "P52503",
            "uniprot_id": "NDUS6_MOUSE",
            "refseq_ac": "NP_035018",
            "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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase Fe-S protein 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-13kD-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs6",
                    "type": "recommended"
                },
                {
                    "name": "IP13",
                    "type": "synonym"
                },
                {
                    "name": "Ip13",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs6",
                    "type": "synonym"
                }
            ],
            "record_id": "P52503-1",
            "evidence": [
                {
                    "id": "0112073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75380-1",
            "uniprot_ac": "O75380",
            "uniprot_id": "NDUS6_HUMAN",
            "refseq_ac": "NP_004544",
            "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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase NDUFS6 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 13kDa subunit A",
                    "type": "synonym"
                },
                {
                    "name": "complex I, mitochondrial respiratory chain, 13-kD subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFS6",
                    "type": "recommended"
                },
                {
                    "name": "CI-13kA",
                    "type": "synonym"
                },
                {
                    "name": "CI-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "CI13KDA",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN9",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS6",
                    "type": "synonym"
                }
            ],
            "record_id": "O75380-1",
            "evidence": [
                {
                    "id": "618232",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618232"
                },
                {
                    "id": "0112073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCZ9-1",
            "uniprot_ac": "D3ZCZ9",
            "uniprot_id": "D3ZCZ9_RAT",
            "refseq_ac": "NP_001410618",
            "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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) Fe-S protein 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase subunit S6-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs6",
                    "type": "recommended"
                },
                {
                    "name": "LOC679739",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs6l1",
                    "type": "synonym"
                },
                {
                    "name": "Ndufs6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCZ9-1",
            "evidence": [
                {
                    "id": "0112073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52504-1",
            "uniprot_ac": "P52504",
            "uniprot_id": "NDUS6_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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-13kD-A",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufs6-ps1",
                    "type": "recommended"
                },
                {
                    "name": "Ndufs6",
                    "type": "recommended"
                },
                {
                    "name": "Ip13",
                    "type": "synonym"
                }
            ],
            "record_id": "P52504-1",
            "evidence": [
                {
                    "id": "0112073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMU0-1",
            "uniprot_ac": "Q9VMU0",
            "uniprot_id": "Q9VMU0_DROME",
            "refseq_ac": "NP_001285613",
            "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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG8680-PB",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 13 kDa A subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 13 kDa A",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 13 kDa-A subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 13 kDa A subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-13A-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-13A",
                    "type": "recommended"
                },
                {
                    "name": "CG8680",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8680",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8680",
                    "type": "synonym"
                },
                {
                    "name": "ND-13A",
                    "type": "synonym"
                },
                {
                    "name": "NDUFS6",
                    "type": "synonym"
                },
                {
                    "name": "NUMM",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFS6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMU0-1",
            "evidence": [
                {
                    "id": "0112073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112073"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112073"
}