{
    "disease_id": "DOID:0110255",
    "recommended_name": {
        "id": "DOID:0110255",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110255",
        "name": "cataract 5 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110255",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110255",
            "name": "CTRCT5",
            "description": ""
        },
        {
            "id": "MONDO:0007290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "name": "cataract 5 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene."
        },
        {
            "id": "MONDO:0007290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "name": "CTRCT5",
            "description": ""
        },
        {
            "id": "MONDO:0007290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "name": "HSF4 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "name": "cataract (disease) caused by mutation in HSF4",
            "description": ""
        },
        {
            "id": "MONDO:0007290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "name": "cataract 5, multiple types",
            "description": ""
        },
        {
            "id": "MIM:116800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116800",
            "name": "Cataract 5, multiple types",
            "description": "Cataract 5, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110255"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110255",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110255",
            "categories": []
        },
        {
            "id": "MONDO:0007290",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007290",
            "categories": []
        },
        {
            "id": "MIM:116800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5CZP2-1",
            "uniprot_ac": "Q5CZP2",
            "uniprot_id": "HSF4_DANRE",
            "refseq_ac": "NP_001315137",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock factor protein 4",
                    "type": "recommended"
                },
                {
                    "name": "heat shock factor protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hsf4",
                    "type": "recommended"
                },
                {
                    "name": "hsf4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113344",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5CZP2-1",
            "evidence": [
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0L1-1",
            "uniprot_ac": "Q9R0L1",
            "uniprot_id": "HSF4_MOUSE",
            "refseq_ac": "NP_001242971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock factor protein 4",
                    "type": "recommended"
                },
                {
                    "name": "DNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "HSF 4",
                    "type": "synonym"
                },
                {
                    "name": "HSTF 4",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "binds heat shock DNA elements",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor 4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mHSF4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsf4",
                    "type": "recommended"
                },
                {
                    "name": "HSF 4",
                    "type": "synonym"
                },
                {
                    "name": "HSTF 4",
                    "type": "synonym"
                },
                {
                    "name": "HSTF4",
                    "type": "synonym"
                },
                {
                    "name": "Hsf4",
                    "type": "synonym"
                },
                {
                    "name": "ldis1",
                    "type": "synonym"
                },
                {
                    "name": "mHSF4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0L1-1",
            "evidence": [
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULV5-1",
            "uniprot_ac": "Q9ULV5",
            "uniprot_id": "HSF4_HUMAN",
            "refseq_ac": "NP_001035757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock factor protein 4",
                    "type": "recommended"
                },
                {
                    "name": "HSF 4",
                    "type": "synonym"
                },
                {
                    "name": "HSTF 4",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "hHSF4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor protein 4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSF4",
                    "type": "recommended"
                },
                {
                    "name": "CTM",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT5",
                    "type": "synonym"
                },
                {
                    "name": "HSF4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULV5-1",
            "evidence": [
                {
                    "id": "116800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/116800"
                },
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10961-1",
            "uniprot_ac": "P10961",
            "uniprot_id": "HSF_YEAST",
            "refseq_ac": "NP_011442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "HSF",
                    "type": "synonym"
                },
                {
                    "name": "HSTF",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock factor protein",
                    "type": "synonym"
                },
                {
                    "name": "stress-responsive transcription factor HSF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSF1",
                    "type": "recommended"
                },
                {
                    "name": "EXA3",
                    "type": "synonym"
                },
                {
                    "name": "HSF1",
                    "type": "synonym"
                },
                {
                    "name": "MAS3",
                    "type": "synonym"
                }
            ],
            "record_id": "P10961-1",
            "evidence": [
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MK39-1",
            "uniprot_ac": "A0A096MK39",
            "uniprot_id": "A0A096MK39_RAT",
            "refseq_ac": "XP_063133975",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor protein 4 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsf4",
                    "type": "recommended"
                },
                {
                    "name": "Hsf4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MK39-1",
            "evidence": [
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22813-1",
            "uniprot_ac": "P22813",
            "uniprot_id": "HSF_DROME",
            "refseq_ac": "NP_476575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock factor protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5748-PA",
                    "type": "synonym"
                },
                {
                    "name": "HSF",
                    "type": "synonym"
                },
                {
                    "name": "HSTF",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Heat-Shock factor",
                    "type": "synonym"
                },
                {
                    "name": "Hsf-PA",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor",
                    "type": "synonym"
                },
                {
                    "name": "heat shock transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "heat-shock transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsf",
                    "type": "recommended"
                },
                {
                    "name": "CG5748",
                    "type": "synonym"
                },
                {
                    "name": "D-HSF",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Hsf",
                    "type": "synonym"
                },
                {
                    "name": "DmHSFa",
                    "type": "synonym"
                },
                {
                    "name": "DmHSF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5748",
                    "type": "synonym"
                },
                {
                    "name": "HSF1",
                    "type": "synonym"
                },
                {
                    "name": "HSFa",
                    "type": "synonym"
                },
                {
                    "name": "HSF",
                    "type": "synonym"
                },
                {
                    "name": "Hsf1",
                    "type": "synonym"
                },
                {
                    "name": "Hsf",
                    "type": "synonym"
                },
                {
                    "name": "dHSF1",
                    "type": "synonym"
                },
                {
                    "name": "dHSFa",
                    "type": "synonym"
                },
                {
                    "name": "dHSF",
                    "type": "synonym"
                },
                {
                    "name": "heat shock factor",
                    "type": "synonym"
                },
                {
                    "name": "hsf-1",
                    "type": "synonym"
                },
                {
                    "name": "hsf1",
                    "type": "synonym"
                },
                {
                    "name": "hsf",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03091",
                    "type": "synonym"
                }
            ],
            "record_id": "P22813-1",
            "evidence": [
                {
                    "id": "0110255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110255"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110255"
}