{
    "disease_id": "DOID:0112089",
    "recommended_name": {
        "id": "DOID:0112089",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112089",
        "name": "nuclear type mitochondrial complex I deficiency 11",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112089",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112089",
            "name": "MC1DN11",
            "description": ""
        },
        {
            "id": "MONDO:0032617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032617",
            "name": "mitochondrial complex I deficiency, nuclear type 11",
            "description": ""
        },
        {
            "id": "MONDO:0032617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032617",
            "name": "MC1DN11",
            "description": ""
        },
        {
            "id": "MIM:618234",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618234",
            "name": "Mitochondrial complex I deficiency, nuclear type 11",
            "description": "Mitochondrial complex I deficiency, nuclear type 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112089"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112089",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112089",
            "categories": []
        },
        {
            "id": "MONDO:0032617",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032617",
            "categories": []
        },
        {
            "id": "MIM:618234",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618234",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CWX2-1",
            "uniprot_ac": "Q9CWX2",
            "uniprot_id": "CIA30_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I intermediate-associated protein 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf1",
                    "type": "recommended"
                },
                {
                    "name": "Cia30",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWX2-1",
            "evidence": [
                {
                    "id": "0112089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y375-1",
            "uniprot_ac": "Q9Y375",
            "uniprot_id": "CIA30_HUMAN",
            "refseq_ac": "NP_057097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I intermediate-associated protein 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate-associated protein 30, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate-associated protein 30, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-65",
                    "type": "synonym"
                },
                {
                    "name": "CGI65",
                    "type": "synonym"
                },
                {
                    "name": "CIA30",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN11",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y375-1",
            "evidence": [
                {
                    "id": "618234",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618234"
                },
                {
                    "id": "0112089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LWG4-1",
            "uniprot_ac": "F1LWG4",
            "uniprot_id": "F1LWG4_RAT",
            "refseq_ac": "NP_001099970",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I intermediate-associated protein 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate-associated protein 30, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf1",
                    "type": "recommended"
                },
                {
                    "name": "Cia30",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LWG4-1",
            "evidence": [
                {
                    "id": "0112089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112089"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAI1-1",
            "uniprot_ac": "Q9VAI1",
            "uniprot_id": "CIA30_DROME",
            "refseq_ac": "NP_651718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I intermediate-associated protein 30, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG7598-PA",
                    "type": "synonym"
                },
                {
                    "name": "CIA30-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate- associate protein 30",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate-associated protein 30",
                    "type": "synonym"
                },
                {
                    "name": "complex I intermediate-associated protein, 30 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NdufAF1",
                    "type": "recommended"
                },
                {
                    "name": "CG7598",
                    "type": "synonym"
                },
                {
                    "name": "CI30",
                    "type": "synonym"
                },
                {
                    "name": "CIA30",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7598",
                    "type": "synonym"
                },
                {
                    "name": "dCI-30",
                    "type": "synonym"
                },
                {
                    "name": "dCIA30",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAI1-1",
            "evidence": [
                {
                    "id": "0112089",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112089"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112089"
}