{
    "disease_id": "DOID:0110268",
    "recommended_name": {
        "id": "DOID:0110268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110268",
        "name": "cataract 22 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110268",
            "name": "CTRCT22",
            "description": ""
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "cataract 22 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene."
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "CRYBB3 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "CTRCT22",
            "description": ""
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "cataract 22",
            "description": ""
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYBB3",
            "description": ""
        },
        {
            "id": "MONDO:0012336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "name": "cataract 22, multiple types",
            "description": ""
        },
        {
            "id": "MIM:609741",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609741",
            "name": "Cataract 22, multiple types",
            "description": "Cataract 22, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110268",
            "categories": []
        },
        {
            "id": "MONDO:0012336",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012336",
            "categories": []
        },
        {
            "id": "MIM:609741",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609741",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJU9-1",
            "uniprot_ac": "Q9JJU9",
            "uniprot_id": "CRBB3_MOUSE",
            "refseq_ac": "NP_001153122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B3",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-B3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb3",
                    "type": "recommended"
                },
                {
                    "name": "Crybb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJU9-1",
            "evidence": [
                {
                    "id": "0110268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26998-1",
            "uniprot_ac": "P26998",
            "uniprot_id": "CRBB3_HUMAN",
            "refseq_ac": "NP_004067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B3",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B3",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBB3",
                    "type": "recommended"
                },
                {
                    "name": "CATCN2",
                    "type": "synonym"
                },
                {
                    "name": "CRYB3",
                    "type": "synonym"
                },
                {
                    "name": "CRYBB3",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT22",
                    "type": "synonym"
                }
            ],
            "record_id": "P26998-1",
            "evidence": [
                {
                    "id": "609741",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609741"
                },
                {
                    "id": "0110268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02524-1",
            "uniprot_ac": "P02524",
            "uniprot_id": "CRBB3_RAT",
            "refseq_ac": "NP_113878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B3",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-B3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb3",
                    "type": "recommended"
                },
                {
                    "name": "Crybb3",
                    "type": "synonym"
                }
            ],
            "record_id": "P02524-1",
            "evidence": [
                {
                    "id": "0110268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62966-1",
            "uniprot_ac": "P62966",
            "uniprot_id": "RABP1_RAT",
            "refseq_ac": "NP_001099186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cellular retinoic acid-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CRABP-I",
                    "type": "synonym"
                },
                {
                    "name": "Cellular retinoic acid-binding protein I",
                    "type": "synonym"
                },
                {
                    "name": "cellular retinoic acid-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cellular retinoic acid-binding protein I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crabp1",
                    "type": "recommended"
                },
                {
                    "name": "Crabp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P62966-1",
            "evidence": [
                {
                    "id": "0110268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110268"
}