{
    "disease_id": "DOID:0110236",
    "recommended_name": {
        "id": "DOID:0110236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110236",
        "name": "cataract 39 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110236",
            "name": "CTRCT39",
            "description": ""
        },
        {
            "id": "DOID:0110236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110236",
            "name": "autosomal dominant cataract 39 multiple types",
            "description": ""
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "cataract 39 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene."
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "CRYGB early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "CTRCT39",
            "description": ""
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "cataract 39, multiple types, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYGB",
            "description": ""
        },
        {
            "id": "MONDO:0014075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "name": "cataract 39, multiple types",
            "description": ""
        },
        {
            "id": "MIM:615188",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615188",
            "name": "Cataract 39, multiple types",
            "description": "Cataract 39, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110236",
            "categories": []
        },
        {
            "id": "MONDO:0014075",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014075",
            "categories": []
        },
        {
            "id": "MIM:615188",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615188",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TEM3-1",
            "uniprot_ac": "A0A8N7TEM3",
            "uniprot_id": "A0A8N7TEM3_DANRE",
            "refseq_ac": "XP_698092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin M2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin M2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crygm2e",
                    "type": "recommended"
                },
                {
                    "name": "crygm2e",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEM3-1",
            "evidence": [
                {
                    "id": "0110236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04344-1",
            "uniprot_ac": "P04344",
            "uniprot_id": "CRGB_MOUSE",
            "refseq_ac": "NP_658906",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin B",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-B-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-crystallin 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-B-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin B",
                    "type": "synonym"
                },
                {
                    "name": "gammaB-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "nuclear opacity",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crygb",
                    "type": "recommended"
                },
                {
                    "name": "Cryg-3",
                    "type": "synonym"
                },
                {
                    "name": "Crygb",
                    "type": "synonym"
                },
                {
                    "name": "DGcry-3",
                    "type": "synonym"
                },
                {
                    "name": "Nop",
                    "type": "synonym"
                }
            ],
            "record_id": "P04344-1",
            "evidence": [
                {
                    "id": "0110236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07316-1",
            "uniprot_ac": "P07316",
            "uniprot_id": "CRGB_HUMAN",
            "refseq_ac": "NP_005201",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin B",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-B-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-crystallin 1-2",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, gamma 1-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYGB",
                    "type": "recommended"
                },
                {
                    "name": "CRYG2",
                    "type": "synonym"
                },
                {
                    "name": "CRYGB",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT39",
                    "type": "synonym"
                }
            ],
            "record_id": "P07316-1",
            "evidence": [
                {
                    "id": "615188",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615188"
                },
                {
                    "id": "0110236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10066-1",
            "uniprot_ac": "P10066",
            "uniprot_id": "CRGB_RAT",
            "refseq_ac": "NP_001103345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-crystallin B",
                    "type": "recommended"
                },
                {
                    "name": "CRY-gamma-B",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-B-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-crystallin 1-2",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, gamma polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-B-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin 1-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-crystallin B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crygb",
                    "type": "recommended"
                },
                {
                    "name": "Cryg2",
                    "type": "synonym"
                },
                {
                    "name": "Crygb",
                    "type": "synonym"
                },
                {
                    "name": "Len",
                    "type": "synonym"
                }
            ],
            "record_id": "P10066-1",
            "evidence": [
                {
                    "id": "0110236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62951-1",
            "uniprot_ac": "Q62951",
            "uniprot_id": "DPYL4_RAT",
            "refseq_ac": "NP_037065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropyrimidinase-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CRMP-3",
                    "type": "synonym"
                },
                {
                    "name": "Collapsin response mediator protein 3",
                    "type": "synonym"
                },
                {
                    "name": "DRP-4",
                    "type": "synonym"
                },
                {
                    "name": "ULIP-4",
                    "type": "synonym"
                },
                {
                    "name": "ULIP4 protein",
                    "type": "synonym"
                },
                {
                    "name": "UNC33-like phosphoprotein 4",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidinase-related protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpysl4",
                    "type": "recommended"
                },
                {
                    "name": "Crmp3",
                    "type": "synonym"
                },
                {
                    "name": "Dpys4",
                    "type": "synonym"
                },
                {
                    "name": "Dpysl4",
                    "type": "synonym"
                },
                {
                    "name": "Ulip4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62951-1",
            "evidence": [
                {
                    "id": "0110236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110236"
}
