{
    "disease_id": "DOID:0112091",
    "recommended_name": {
        "id": "DOID:0112091",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112091",
        "name": "nuclear type mitochondrial complex I deficiency 34",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112091",
            "name": "MC1DN34",
            "description": ""
        },
        {
            "id": "MONDO:0032910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032910",
            "name": "mitochondrial complex I deficiency, nuclear type 34",
            "description": ""
        },
        {
            "id": "MONDO:0032910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032910",
            "name": "MC1DN34",
            "description": ""
        },
        {
            "id": "MIM:618776",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618776",
            "name": "Mitochondrial complex I deficiency, nuclear type 34",
            "description": "Mitochondrial complex I deficiency, nuclear type 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112091"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112091",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112091",
            "categories": []
        },
        {
            "id": "MONDO:0032910",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032910",
            "categories": []
        },
        {
            "id": "MIM:618776",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618776",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "U3JA56-1",
            "uniprot_ac": "U3JA56",
            "uniprot_id": "U3JA56_DANRE",
            "refseq_ac": "NP_001289939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf8",
                    "type": "recommended"
                },
                {
                    "name": "fc06d12",
                    "type": "synonym"
                },
                {
                    "name": "ndufaf8",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-21c1.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06d12",
                    "type": "synonym"
                }
            ],
            "record_id": "U3JA56-1",
            "evidence": [
                {
                    "id": "0112091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AMZ4-1",
            "uniprot_ac": "A2AMZ4",
            "uniprot_id": "NDUF8_MOUSE",
            "refseq_ac": "NP_001103712",
            "glycoprotein": "no",
            "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 assembly factor 8",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 8",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf8",
                    "type": "recommended"
                },
                {
                    "name": "1810043H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf8",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AMZ4-1",
            "evidence": [
                {
                    "id": "0112091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1L188-1",
            "uniprot_ac": "A1L188",
            "uniprot_id": "NDUF8_HUMAN",
            "refseq_ac": "NP_001079990",
            "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 assembly factor 8",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF8",
                    "type": "recommended"
                },
                {
                    "name": "C17orf89",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN34",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF8",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L188-1",
            "evidence": [
                {
                    "id": "618776",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618776"
                },
                {
                    "id": "0112091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M8P4-1",
            "uniprot_ac": "A0ABK0M8P4",
            "uniprot_id": "A0ABK0M8P4_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:ubiquinone oxidoreductase complex assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M8P4-1",
            "evidence": [
                {
                    "id": "0112091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112091"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112091"
}