{
    "disease_id": "DOID:0112097",
    "recommended_name": {
        "id": "DOID:0112097",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112097",
        "name": "nuclear type mitochondrial complex I deficiency 33",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112097",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112097",
            "name": "MC1DN33",
            "description": ""
        },
        {
            "id": "MONDO:0032636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032636",
            "name": "mitochondrial complex I deficiency, nuclear type 33",
            "description": ""
        },
        {
            "id": "MONDO:0032636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032636",
            "name": "MC1DN33",
            "description": ""
        },
        {
            "id": "MIM:618253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618253",
            "name": "Mitochondrial complex I deficiency, nuclear type 33",
            "description": "Mitochondrial complex I deficiency, nuclear type 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112097"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112097",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112097",
            "categories": []
        },
        {
            "id": "MONDO:0032636",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032636",
            "categories": []
        },
        {
            "id": "MIM:618253",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618253",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQZ5-1",
            "uniprot_ac": "Q9CQZ5",
            "uniprot_id": "NDUA6_MOUSE",
            "refseq_ac": "NP_080263",
            "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] 1 alpha subcomplex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "CI-B14",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B14",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (B14)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B14 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-B14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa6",
                    "type": "recommended"
                },
                {
                    "name": "14kDa",
                    "type": "synonym"
                },
                {
                    "name": "2700038D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230217P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQZ5-1",
            "evidence": [
                {
                    "id": "0112097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56556-1",
            "uniprot_ac": "P56556",
            "uniprot_id": "NDUA6_HUMAN",
            "refseq_ac": "NP_002481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "CI-B14",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-B14",
                    "type": "synonym"
                },
                {
                    "name": "LYR motif-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase B14 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA6",
                    "type": "recommended"
                },
                {
                    "name": "B14",
                    "type": "synonym"
                },
                {
                    "name": "CI-B14",
                    "type": "synonym"
                },
                {
                    "name": "LYRM6",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN33",
                    "type": "synonym"
                },
                {
                    "name": "NADHB14",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA6",
                    "type": "synonym"
                }
            ],
            "record_id": "P56556-1",
            "evidence": [
                {
                    "id": "618253",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618253"
                },
                {
                    "id": "0112097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3V2-1",
            "uniprot_ac": "D4A3V2",
            "uniprot_id": "D4A3V2_RAT",
            "refseq_ac": "NP_001123977",
            "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] 1 alpha subcomplex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (B14)",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa6",
                    "type": "recommended"
                },
                {
                    "name": "Ndufa6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A3V2-1",
            "evidence": [
                {
                    "id": "0112097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112097"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112097"
}