{
    "disease_id": "DOID:0110230",
    "recommended_name": {
        "id": "DOID:0110230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110230",
        "name": "cataract 34 multiple types",
        "description": "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110230",
            "name": "CATC3",
            "description": ""
        },
        {
            "id": "DOID:0110230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110230",
            "name": "CTRCT34",
            "description": ""
        },
        {
            "id": "DOID:0110230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110230",
            "name": "autosomal recessive congenital cataract 3",
            "description": ""
        },
        {
            "id": "DOID:0110230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110230",
            "name": "cataract 34 multiple types with or without microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "cataract 34 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene."
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "CATC3",
            "description": ""
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "CTRCT34",
            "description": ""
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "FOXE3 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "cataract (disease) caused by mutation in FOXE3",
            "description": ""
        },
        {
            "id": "MONDO:0013067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "name": "cataract 34, multiple types",
            "description": ""
        },
        {
            "id": "MIM:612968",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612968",
            "name": "Cataract 34, multiple types",
            "description": "Cataract 34, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110230"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110230",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110230",
            "categories": []
        },
        {
            "id": "MONDO:0013067",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013067",
            "categories": []
        },
        {
            "id": "MIM:612968",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612968",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QY14-1",
            "uniprot_ac": "Q9QY14",
            "uniprot_id": "FOXE3_MOUSE",
            "refseq_ac": "NP_056573",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E3",
                    "type": "recommended"
                },
                {
                    "name": "Rinshoken cataract",
                    "type": "synonym"
                },
                {
                    "name": "dysgenetic lens",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxe3",
                    "type": "recommended"
                },
                {
                    "name": "FREAC8",
                    "type": "synonym"
                },
                {
                    "name": "Foxe3",
                    "type": "synonym"
                },
                {
                    "name": "dyl",
                    "type": "synonym"
                },
                {
                    "name": "rct",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY14-1",
            "evidence": [
                {
                    "id": "0110230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13461-1",
            "uniprot_ac": "Q13461",
            "uniprot_id": "FOXE3_HUMAN",
            "refseq_ac": "NP_036318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E3",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-8",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL12",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead, drosophila, homolog-like 12",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL12",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXE3",
                    "type": "recommended"
                },
                {
                    "name": "AAT11",
                    "type": "synonym"
                },
                {
                    "name": "ASGD2",
                    "type": "synonym"
                },
                {
                    "name": "CATC3",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT34",
                    "type": "synonym"
                },
                {
                    "name": "FKHL12",
                    "type": "synonym"
                },
                {
                    "name": "FOXE3",
                    "type": "synonym"
                },
                {
                    "name": "FREAC8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13461-1",
            "evidence": [
                {
                    "id": "612968",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612968"
                },
                {
                    "id": "0110230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40466-1",
            "uniprot_ac": "P40466",
            "uniprot_id": "FKH1_YEAST",
            "refseq_ac": "NP_012135",
            "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": "Fork head protein homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "forkhead family transcription factor FKH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKH1",
                    "type": "recommended"
                },
                {
                    "name": "FKH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40466-1",
            "evidence": [
                {
                    "id": "0110230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63250-1",
            "uniprot_ac": "Q63250",
            "uniprot_id": "FOXE3_RAT",
            "refseq_ac": "NP_599166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E3",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-8",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL12",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "HFH-7",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL12",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxe3",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-8",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl12",
                    "type": "synonym"
                },
                {
                    "name": "Foxe3",
                    "type": "synonym"
                },
                {
                    "name": "Freac8",
                    "type": "synonym"
                },
                {
                    "name": "HFH7",
                    "type": "synonym"
                },
                {
                    "name": "HNF3",
                    "type": "synonym"
                },
                {
                    "name": "Hfh7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63250-1",
            "evidence": [
                {
                    "id": "0110230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110230"
}
