{
    "disease_id": "DOID:0080099",
    "recommended_name": {
        "id": "DOID:0080099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080099",
        "name": "myopathy, lactic acidosis, and sideroblastic anemia",
        "description": "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0111184",
            "label": "myopathy, lactic acidosis, and sideroblastic anemia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111185",
            "label": "myopathy, lactic acidosis, and sideroblastic anemia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111186",
            "label": "myopathy, lactic acidosis, and sideroblastic anemia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080099",
        "DOID:0111184",
        "DOID:0111186",
        "DOID:0111185"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080099",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QWW1-1",
            "uniprot_ac": "F1QWW1",
            "uniprot_id": "F1QWW1_DANRE",
            "refseq_ac": "NP_001008603",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.12",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(38-40) synthase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pus1",
                    "type": "recommended"
                },
                {
                    "name": "pus1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103516",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QWW1-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU56-1",
            "uniprot_ac": "Q9WU56",
            "uniprot_id": "PUS1_MOUSE",
            "refseq_ac": "NP_001020733",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.12",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(38-40) synthase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus1",
                    "type": "recommended"
                },
                {
                    "name": "A730013B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-0873",
                    "type": "synonym"
                },
                {
                    "name": "MPUS1",
                    "type": "synonym"
                },
                {
                    "name": "Pus1",
                    "type": "synonym"
                },
                {
                    "name": "mPus1p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU56-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12211-1",
            "uniprot_ac": "Q12211",
            "uniprot_id": "PUS1_YEAST",
            "refseq_ac": "NP_015112",
            "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": "tRNA pseudouridine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase PUS1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUS1",
                    "type": "recommended"
                },
                {
                    "name": "PUS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12211-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53167-1",
            "uniprot_ac": "P53167",
            "uniprot_id": "PUS2_YEAST",
            "refseq_ac": "NP_011452",
            "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": "tRNA pseudouridine(27/28) synthase",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.44",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase PUS2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUS2",
                    "type": "recommended"
                },
                {
                    "name": "PUS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53167-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM92-1",
            "uniprot_ac": "Q4KM92",
            "uniprot_id": "PUS1_RAT",
            "refseq_ac": "NP_001020734",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.12",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(38-40) synthase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus1",
                    "type": "recommended"
                },
                {
                    "name": "Pus1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM92-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIR1-1",
            "uniprot_ac": "E1JIR1",
            "uniprot_id": "E1JIR1_DROME",
            "refseq_ac": "NP_001163664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.12",
                    "type": "synonym"
                },
                {
                    "name": "CG4159-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pus1-PB",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(38-40) synthase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus1",
                    "type": "recommended"
                },
                {
                    "name": "CG4159",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4159",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4159",
                    "type": "synonym"
                },
                {
                    "name": "PUS1",
                    "type": "synonym"
                },
                {
                    "name": "Pus1",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIR1-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y606-1",
            "uniprot_ac": "Q9Y606",
            "uniprot_id": "PUS1_HUMAN",
            "refseq_ac": "NP_001002019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.12",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA pseudouridine synthase A",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine synthase A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(38-40) synthase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridylate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA uridine isomerase I",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-uridine isomerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUS1",
                    "type": "recommended"
                },
                {
                    "name": "MLASA1",
                    "type": "synonym"
                },
                {
                    "name": "PP8985",
                    "type": "synonym"
                },
                {
                    "name": "PUS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y606-1",
            "evidence": [
                {
                    "id": "0080099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080099"
}