{
    "disease_id": "DOID:0112096",
    "recommended_name": {
        "id": "DOID:0112096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112096",
        "name": "nuclear type mitochondrial complex I deficiency 16",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112096",
            "name": "MC1DN16",
            "description": ""
        },
        {
            "id": "MONDO:0032621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032621",
            "name": "mitochondrial complex I deficiency, nuclear type 16",
            "description": ""
        },
        {
            "id": "MONDO:0032621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032621",
            "name": "MC1DN16",
            "description": ""
        },
        {
            "id": "MIM:618238",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618238",
            "name": "Mitochondrial complex I deficiency, nuclear type 16",
            "description": "Mitochondrial complex I deficiency, nuclear type 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112096",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112096",
            "categories": []
        },
        {
            "id": "MONDO:0032621",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032621",
            "categories": []
        },
        {
            "id": "MIM:618238",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618238",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3KP37-1",
            "uniprot_ac": "A3KP37",
            "uniprot_id": "NDUF5_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Putative methyltransferase NDUFAF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf5",
                    "type": "recommended"
                },
                {
                    "name": "zgc:162919",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KP37-1",
            "evidence": [
                {
                    "id": "0112096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2APY7-1",
            "uniprot_ac": "A2APY7",
            "uniprot_id": "NDUF5_MOUSE",
            "refseq_ac": "NP_081369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Putative methyltransferase NDUFAF5",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase C20orf7 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NDUFAF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf5",
                    "type": "recommended"
                },
                {
                    "name": "2310003L22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf5",
                    "type": "synonym"
                }
            ],
            "record_id": "A2APY7-1",
            "evidence": [
                {
                    "id": "0112096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TEU4-1",
            "uniprot_ac": "Q5TEU4",
            "uniprot_id": "NDUF5_HUMAN",
            "refseq_ac": "NP_001034464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Putative methyltransferase NDUFAF5",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase C20orf7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NDUFAF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF5",
                    "type": "recommended"
                },
                {
                    "name": "C20orf7",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN16",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF5",
                    "type": "synonym"
                },
                {
                    "name": "bA526K24.2",
                    "type": "synonym"
                },
                {
                    "name": "dJ842G6.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TEU4-1",
            "evidence": [
                {
                    "id": "618238",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618238"
                },
                {
                    "id": "0112096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GV71-1",
            "uniprot_ac": "B2GV71",
            "uniprot_id": "NDUF5_RAT",
            "refseq_ac": "NP_001119843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Putative methyltransferase NDUFAF5",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "arginine-hydroxylase NDUFAF5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase C20orf7 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NDUFAF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf5",
                    "type": "recommended"
                },
                {
                    "name": "Ndufaf5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309829",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GV71-1",
            "evidence": [
                {
                    "id": "0112096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112096"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112096"
}