{
    "disease_id": "DOID:0110240",
    "recommended_name": {
        "id": "DOID:0110240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110240",
        "name": "cataract 20 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0110240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110240",
            "name": "CTRCT20",
            "description": ""
        },
        {
            "id": "MONDO:0007284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "name": "cataract 20 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene."
        },
        {
            "id": "MONDO:0007284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "name": "CRYGS cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "name": "CTRCT20",
            "description": ""
        },
        {
            "id": "MONDO:0007284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "name": "cataract (disease) caused by mutation in CRYGS",
            "description": ""
        },
        {
            "id": "MONDO:0007284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "name": "cataract 20, multiple types",
            "description": ""
        },
        {
            "id": "MIM:116100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116100",
            "name": "Cataract 20, multiple types",
            "description": "Cataract 20, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110240",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110240",
            "categories": []
        },
        {
            "id": "MONDO:0007284",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007284",
            "categories": []
        },
        {
            "id": "MIM:116100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35486-1",
            "uniprot_ac": "O35486",
            "uniprot_id": "CRYGS_MOUSE",
            "refseq_ac": "NP_034097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin S",
                    "type": "recommended"
                },
                {
                    "name": "Beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-S-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "opacity due to poor secondary fiber cell junction",
                    "type": "synonym"
                },
                {
                    "name": "recessive nuclear cataract",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crygs",
                    "type": "recommended"
                },
                {
                    "name": "Crygs",
                    "type": "synonym"
                },
                {
                    "name": "Opj",
                    "type": "synonym"
                },
                {
                    "name": "rncat",
                    "type": "synonym"
                }
            ],
            "record_id": "O35486-1",
            "evidence": [
                {
                    "id": "0110240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22914-1",
            "uniprot_ac": "P22914",
            "uniprot_id": "CRYGS_HUMAN",
            "refseq_ac": "NP_060011",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin S",
                    "type": "recommended"
                },
                {
                    "name": "Beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-S-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, gamma 8",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin S",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYGS",
                    "type": "recommended"
                },
                {
                    "name": "CRYG8",
                    "type": "synonym"
                },
                {
                    "name": "CRYGS",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT20",
                    "type": "synonym"
                }
            ],
            "record_id": "P22914-1",
            "evidence": [
                {
                    "id": "116100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/116100"
                },
                {
                    "id": "0110240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C5E9-1",
            "uniprot_ac": "P0C5E9",
            "uniprot_id": "CRYGS_RAT",
            "refseq_ac": "NP_001103023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin S",
                    "type": "recommended"
                },
                {
                    "name": "Beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-S-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin S",
                    "type": "synonym"
                },
                {
                    "name": "gamma-S-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin S",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crygs",
                    "type": "recommended"
                },
                {
                    "name": "Crygs",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C5E9-1",
            "evidence": [
                {
                    "id": "0110240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62697-1",
            "uniprot_ac": "P62697",
            "uniprot_id": "CRBB2_RAT",
            "refseq_ac": "NP_037069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "R.norvegicus CRYBB2 gene (crystallin, beta B2)",
                    "type": "synonym"
                },
                {
                    "name": "beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B2",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin Bp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb2",
                    "type": "recommended"
                },
                {
                    "name": "Crybb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62697-1",
            "evidence": [
                {
                    "id": "0110240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110240"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110240"
}