{
    "disease_id": "DOID:0112090",
    "recommended_name": {
        "id": "DOID:0112090",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112090",
        "name": "nuclear type mitochondrial complex I deficiency 27",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112090",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112090",
            "name": "MC1DN27",
            "description": ""
        },
        {
            "id": "MONDO:0032631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032631",
            "name": "mitochondrial complex I deficiency, nuclear type 27",
            "description": ""
        },
        {
            "id": "MONDO:0032631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032631",
            "name": "MC1DN27",
            "description": ""
        },
        {
            "id": "MIM:618248",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618248",
            "name": "Mitochondrial complex I deficiency, nuclear type 27",
            "description": "Mitochondrial complex I deficiency, nuclear type 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112090"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112090",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112090",
            "categories": []
        },
        {
            "id": "MONDO:0032631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032631",
            "categories": []
        },
        {
            "id": "MIM:618248",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618248",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D799-1",
            "uniprot_ac": "Q9D799",
            "uniprot_id": "FMT_MOUSE",
            "refseq_ac": "NP_081410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.9",
                    "type": "synonym"
                },
                {
                    "name": "MtFMT",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtfmt",
                    "type": "recommended"
                },
                {
                    "name": "2310020P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fmt",
                    "type": "synonym"
                },
                {
                    "name": "Mtfmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D799-1",
            "evidence": [
                {
                    "id": "0112090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96DP5-1",
            "uniprot_ac": "Q96DP5",
            "uniprot_id": "FMT_HUMAN",
            "refseq_ac": "NP_640335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.9",
                    "type": "synonym"
                },
                {
                    "name": "MtFMT",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTFMT",
                    "type": "recommended"
                },
                {
                    "name": "COXPD15",
                    "type": "synonym"
                },
                {
                    "name": "FMT1",
                    "type": "synonym"
                },
                {
                    "name": "FMT",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN27",
                    "type": "synonym"
                },
                {
                    "name": "MTFMT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96DP5-1",
            "evidence": [
                {
                    "id": "618248",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618248"
                },
                {
                    "id": "0112090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32785-1",
            "uniprot_ac": "P32785",
            "uniprot_id": "FMT_YEAST",
            "refseq_ac": "NP_009540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.9",
                    "type": "synonym"
                },
                {
                    "name": "MtFMT",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA formyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMT1",
                    "type": "recommended"
                },
                {
                    "name": "FMT1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0311",
                    "type": "synonym"
                },
                {
                    "name": "YBL0313",
                    "type": "synonym"
                }
            ],
            "record_id": "P32785-1",
            "evidence": [
                {
                    "id": "0112090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0C5-1",
            "uniprot_ac": "Q5I0C5",
            "uniprot_id": "FMT_RAT",
            "refseq_ac": "NP_001009697",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.9",
                    "type": "synonym"
                },
                {
                    "name": "MtFMT",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtfmt",
                    "type": "recommended"
                },
                {
                    "name": "Mtfmt",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309462",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0C5-1",
            "evidence": [
                {
                    "id": "0112090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112090"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9Z0-1",
            "uniprot_ac": "Q9V9Z0",
            "uniprot_id": "Q9V9Z0_DROME",
            "refseq_ac": "NP_651857",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionyl-tRNA formyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.9",
                    "type": "synonym"
                },
                {
                    "name": "CG1750-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1750",
                    "type": "recommended"
                },
                {
                    "name": "CG1750",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1750",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1750",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9Z0-1",
            "evidence": [
                {
                    "id": "0112090",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112090"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112090"
}