{
    "disease_id": "DOID:0110259",
    "recommended_name": {
        "id": "DOID:0110259",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110259",
        "name": "cataract 43",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110259",
            "name": "CTRCT43",
            "description": ""
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "cataract 43",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene."
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "CTRCT43",
            "description": ""
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "UNC45B early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "cataract 43",
            "description": ""
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "cataract type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "name": "early-onset non-syndromic cataract caused by mutation in UNC45B",
            "description": ""
        },
        {
            "id": "MIM:616279",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616279",
            "name": "Cataract 43",
            "description": "Cataract 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110259",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110259",
            "categories": []
        },
        {
            "id": "MONDO:0014565",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014565",
            "categories": []
        },
        {
            "id": "MIM:616279",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616279",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DGE9-1",
            "uniprot_ac": "Q6DGE9",
            "uniprot_id": "UN45B_DANRE",
            "refseq_ac": "NP_705959",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-45 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "UNC45-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Unc-45B",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "unc-45 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc45b",
                    "type": "recommended"
                },
                {
                    "name": "Unc-45B",
                    "type": "synonym"
                },
                {
                    "name": "cb393",
                    "type": "synonym"
                },
                {
                    "name": "fb37f02",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-204d2.1",
                    "type": "synonym"
                },
                {
                    "name": "unc45b",
                    "type": "synonym"
                },
                {
                    "name": "unc45r",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa05a03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa10f03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37f02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96f06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10f04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGE9-1",
            "evidence": [
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGY6-1",
            "uniprot_ac": "Q8CGY6",
            "uniprot_id": "UN45B_MOUSE",
            "refseq_ac": "NP_848795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-45 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "Unc-45B",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy associated 4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle UNC45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc45b",
                    "type": "recommended"
                },
                {
                    "name": "Cmya4",
                    "type": "synonym"
                },
                {
                    "name": "D230041A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "UNC-45B",
                    "type": "synonym"
                },
                {
                    "name": "Unc45b",
                    "type": "synonym"
                },
                {
                    "name": "Unc45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGY6-1",
            "evidence": [
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWX7-1",
            "uniprot_ac": "Q8IWX7",
            "uniprot_id": "UN45B_HUMAN",
            "refseq_ac": "NP_001028748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-45 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "SMUNC45",
                    "type": "synonym"
                },
                {
                    "name": "Unc-45B",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy associated 4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle UNC45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNC45B",
                    "type": "recommended"
                },
                {
                    "name": "CMYA4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT43",
                    "type": "synonym"
                },
                {
                    "name": "MFM11",
                    "type": "synonym"
                },
                {
                    "name": "SMUNC45",
                    "type": "synonym"
                },
                {
                    "name": "UNC-45B",
                    "type": "synonym"
                },
                {
                    "name": "UNC45B",
                    "type": "synonym"
                },
                {
                    "name": "UNC45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWX7-1",
            "evidence": [
                {
                    "id": "616279",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616279"
                },
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51534-1",
            "uniprot_ac": "P51534",
            "uniprot_id": "SHE4_YEAST",
            "refseq_ac": "NP_014678",
            "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": "SWI5-dependent HO expression protein 4",
                    "type": "recommended"
                },
                {
                    "name": "She4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHE4",
                    "type": "recommended"
                },
                {
                    "name": "DIM1",
                    "type": "synonym"
                },
                {
                    "name": "OR26.26",
                    "type": "synonym"
                },
                {
                    "name": "SHE4",
                    "type": "synonym"
                }
            ],
            "record_id": "P51534-1",
            "evidence": [
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8U9-1",
            "uniprot_ac": "D4A8U9",
            "uniprot_id": "D4A8U9_RAT",
            "refseq_ac": "NP_001402006",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-45 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "cardiomyopathy associated 4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-45 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "unc-45 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc45b",
                    "type": "recommended"
                },
                {
                    "name": "Cmya4",
                    "type": "synonym"
                },
                {
                    "name": "Unc45b",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A8U9-1",
            "evidence": [
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHW4-1",
            "uniprot_ac": "Q9VHW4",
            "uniprot_id": "Q9VHW4_DROME",
            "refseq_ac": "NP_001303425",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2708-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncoordinated 45, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Uncoordinated 45, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "poulpe",
                    "type": "synonym"
                },
                {
                    "name": "translocase of outer membrane 34",
                    "type": "synonym"
                },
                {
                    "name": "unc-45-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated 45, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-45",
                    "type": "recommended"
                },
                {
                    "name": "CG2708",
                    "type": "synonym"
                },
                {
                    "name": "DmUNC-45",
                    "type": "synonym"
                },
                {
                    "name": "DmUnc-45",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2708",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2708",
                    "type": "synonym"
                },
                {
                    "name": "Tom34",
                    "type": "synonym"
                },
                {
                    "name": "UNC-45",
                    "type": "synonym"
                },
                {
                    "name": "UNC45",
                    "type": "synonym"
                },
                {
                    "name": "Unc45",
                    "type": "synonym"
                },
                {
                    "name": "dUNC-45",
                    "type": "synonym"
                },
                {
                    "name": "dUnc-45",
                    "type": "synonym"
                },
                {
                    "name": "dUnc45",
                    "type": "synonym"
                },
                {
                    "name": "dunc-45",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03692",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.721",
                    "type": "synonym"
                },
                {
                    "name": "pup",
                    "type": "synonym"
                },
                {
                    "name": "unc-45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHW4-1",
            "evidence": [
                {
                    "id": "0110259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110259"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110259"
}