{
    "disease_id": "DOID:0112139",
    "recommended_name": {
        "id": "DOID:0112139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112139",
        "name": "nuclear type mitochondrial complex I deficiency 35",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112139",
            "name": "MC1DN35",
            "description": ""
        },
        {
            "id": "MONDO:0033560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033560",
            "name": "mitochondrial complex 1 deficiency, nuclear type 35",
            "description": ""
        },
        {
            "id": "MONDO:0033560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033560",
            "name": "MC1DN35",
            "description": ""
        },
        {
            "id": "MIM:619003",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619003",
            "name": "Mitochondrial complex I deficiency, nuclear type 35",
            "description": "Mitochondrial complex I deficiency, nuclear type 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112139"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112139",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112139",
            "categories": []
        },
        {
            "id": "MONDO:0033560",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033560",
            "categories": []
        },
        {
            "id": "MIM:619003",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619003",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DCS9-1",
            "uniprot_ac": "Q9DCS9",
            "uniprot_id": "NDUBA_MOUSE",
            "refseq_ac": "NP_080960",
            "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 beta subcomplex subunit 10",
                    "type": "recommended"
                },
                {
                    "name": "CI-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase PDSW subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-PDSW",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb10",
                    "type": "recommended"
                },
                {
                    "name": "0610011B04Rik",
                    "type": "synonym"
                },
                {
                    "name": "22kDa",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb10",
                    "type": "synonym"
                },
                {
                    "name": "PDSW",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCS9-1",
            "evidence": [
                {
                    "id": "0112139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96000-1",
            "uniprot_ac": "O96000",
            "uniprot_id": "NDUBA_HUMAN",
            "refseq_ac": "NP_004539",
            "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] 1 beta subcomplex subunit 10",
                    "type": "recommended"
                },
                {
                    "name": "CI-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase PDSW subunit (RH 16p13.3)",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase PDSW subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I PDSW subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-PDSW",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFB10",
                    "type": "recommended"
                },
                {
                    "name": "MC1DN35",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB10",
                    "type": "synonym"
                },
                {
                    "name": "PDSW",
                    "type": "synonym"
                }
            ],
            "record_id": "O96000-1",
            "evidence": [
                {
                    "id": "619003",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619003"
                },
                {
                    "id": "0112139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0T0-1",
            "uniprot_ac": "D4A0T0",
            "uniprot_id": "D4A0T0_RAT",
            "refseq_ac": "NP_001102913",
            "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] 1 beta subcomplex subunit 10",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase PDSW subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb10",
                    "type": "recommended"
                },
                {
                    "name": "Ndufb10",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A0T0-1",
            "evidence": [
                {
                    "id": "0112139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQR2-1",
            "uniprot_ac": "Q9VQR2",
            "uniprot_id": "Q9VQR2_DROME",
            "refseq_ac": "NP_651972",
            "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] 1 beta subcomplex subunit 10",
                    "type": "recommended"
                },
                {
                    "name": "CG8844-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) PDSW subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase PDSW",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase PDSW subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase PDSW subunit",
                    "type": "synonym"
                },
                {
                    "name": "ND-PDSW-PA",
                    "type": "synonym"
                },
                {
                    "name": "pdsw",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-PDSW",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE65754",
                    "type": "synonym"
                },
                {
                    "name": "CG8844",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8844",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8844",
                    "type": "synonym"
                },
                {
                    "name": "ND-PDSW",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB10",
                    "type": "synonym"
                },
                {
                    "name": "NIDM",
                    "type": "synonym"
                },
                {
                    "name": "PDSW",
                    "type": "synonym"
                },
                {
                    "name": "Pdsw",
                    "type": "synonym"
                },
                {
                    "name": "Q9VQR2",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey91",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFB10",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10101",
                    "type": "synonym"
                },
                {
                    "name": "mito",
                    "type": "synonym"
                },
                {
                    "name": "pdsw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQR2-1",
            "evidence": [
                {
                    "id": "0112139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112139"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112139"
}