{
    "disease_id": "DOID:0112069",
    "recommended_name": {
        "id": "DOID:0112069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112069",
        "name": "nuclear type mitochondrial complex I deficiency 22",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112069",
            "name": "MC1DN22",
            "description": ""
        },
        {
            "id": "MONDO:0032626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032626",
            "name": "mitochondrial complex I deficiency, nuclear type 22",
            "description": ""
        },
        {
            "id": "MONDO:0032626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032626",
            "name": "MC1DN22",
            "description": ""
        },
        {
            "id": "MIM:618243",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618243",
            "name": "Mitochondrial complex I deficiency, nuclear type 22",
            "description": "Mitochondrial complex I deficiency, nuclear type 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112069"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112069",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112069",
            "categories": []
        },
        {
            "id": "MONDO:0032626",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032626",
            "categories": []
        },
        {
            "id": "MIM:618243",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618243",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99LC3-1",
            "uniprot_ac": "Q99LC3",
            "uniprot_id": "NDUAA_MOUSE",
            "refseq_ac": "NP_077159",
            "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 10, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-42kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-42kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 42 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-42kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa10",
                    "type": "recommended"
                },
                {
                    "name": "2900053E13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LC3-1",
            "evidence": [
                {
                    "id": "0112069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95299-1",
            "uniprot_ac": "O95299",
            "uniprot_id": "NDUAA_HUMAN",
            "refseq_ac": "NP_004535",
            "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 alpha subcomplex subunit 10, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-42kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-42kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 42 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I 42kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFA10",
                    "type": "recommended"
                },
                {
                    "name": "CI-42KD",
                    "type": "synonym"
                },
                {
                    "name": "CI-42k",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN22",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA10",
                    "type": "synonym"
                }
            ],
            "record_id": "O95299-1",
            "evidence": [
                {
                    "id": "618243",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618243"
                },
                {
                    "id": "0112069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q561S0-1",
            "uniprot_ac": "Q561S0",
            "uniprot_id": "NDUAA_RAT",
            "refseq_ac": "NP_872612",
            "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 alpha subcomplex subunit 10, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-42kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-42kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase 1 alpha subcomplex 10-like protein",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 42 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa10l1",
                    "type": "recommended"
                },
                {
                    "name": "Ndufa10",
                    "type": "recommended"
                },
                {
                    "name": "CI-42kD",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa10l1",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q561S0-1",
            "evidence": [
                {
                    "id": "0112069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91929-1",
            "uniprot_ac": "P91929",
            "uniprot_id": "NDUAA_DROME",
            "refseq_ac": "NP_001262821",
            "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 alpha subcomplex subunit 10, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG6343-PC",
                    "type": "synonym"
                },
                {
                    "name": "CI-42kD",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-42kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 42 kDa subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10",
                    "type": "synonym"
                },
                {
                    "name": "NADH ubiquinone oxidoreductase 42 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 42 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH: UBIQUINONE REDUCTASE 42 KD SUBUNIT PRECURSOR",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase 42 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 42 kD",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone reductase 42kD subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "ND-42-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ND-42",
                    "type": "recommended"
                },
                {
                    "name": "A10",
                    "type": "synonym"
                },
                {
                    "name": "CG6343",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6343",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6343",
                    "type": "synonym"
                },
                {
                    "name": "ND-42",
                    "type": "synonym"
                },
                {
                    "name": "ND42",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA10",
                    "type": "synonym"
                },
                {
                    "name": "NUDM",
                    "type": "synonym"
                },
                {
                    "name": "NdufA10",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFA10",
                    "type": "synonym"
                }
            ],
            "record_id": "P91929-1",
            "evidence": [
                {
                    "id": "0112069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112069"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112069"
}