{
    "disease_id": "DOID:0110269",
    "recommended_name": {
        "id": "DOID:0110269",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110269",
        "name": "cataract 3 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110269",
            "name": "CTRCT3",
            "description": ""
        },
        {
            "id": "DOID:0110269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110269",
            "name": "cataract 3 multiple types with or without microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0011104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "name": "cataract 3 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene."
        },
        {
            "id": "MONDO:0011104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "name": "CRYBB2 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "name": "CTRCT3",
            "description": ""
        },
        {
            "id": "MONDO:0011104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "name": "cataract (disease) caused by mutation in CRYBB2",
            "description": ""
        },
        {
            "id": "MONDO:0011104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "name": "cataract 3, multiple types",
            "description": ""
        },
        {
            "id": "MIM:601547",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601547",
            "name": "Cataract 3, multiple types",
            "description": "Cataract 3, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110269",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110269",
            "categories": []
        },
        {
            "id": "MONDO:0011104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011104",
            "categories": []
        },
        {
            "id": "MIM:601547",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601547",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62696-1",
            "uniprot_ac": "P62696",
            "uniprot_id": "CRBB2_MOUSE",
            "refseq_ac": "NP_031799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B2",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin Bp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb2",
                    "type": "recommended"
                },
                {
                    "name": "Cryb-2",
                    "type": "synonym"
                },
                {
                    "name": "Crybb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62696-1",
            "evidence": [
                {
                    "id": "0110269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43320-1",
            "uniprot_ac": "P43320",
            "uniprot_id": "CRBB2_HUMAN",
            "refseq_ac": "NP_000487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "CTA-221G9.7",
                    "type": "synonym"
                },
                {
                    "name": "beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B2",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBB2",
                    "type": "recommended"
                },
                {
                    "name": "CCA2",
                    "type": "synonym"
                },
                {
                    "name": "CRYB2A",
                    "type": "synonym"
                },
                {
                    "name": "CRYB2",
                    "type": "synonym"
                },
                {
                    "name": "CRYBB2",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT3",
                    "type": "synonym"
                },
                {
                    "name": "D22S665",
                    "type": "synonym"
                }
            ],
            "record_id": "P43320-1",
            "evidence": [
                {
                    "id": "601547",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601547"
                },
                {
                    "id": "0110269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110269"
                }
            ]
        },
        {
            "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": "0110269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18886-1",
            "uniprot_ac": "P18886",
            "uniprot_id": "CPT2_RAT",
            "refseq_ac": "NP_037062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carnitine O-palmitoyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT II",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpt2",
                    "type": "recommended"
                },
                {
                    "name": "CPTII",
                    "type": "synonym"
                },
                {
                    "name": "Cpt-2",
                    "type": "synonym"
                },
                {
                    "name": "Cpt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18886-1",
            "evidence": [
                {
                    "id": "0110269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110269"
                }
            ]
        },
        {
            "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": "0110269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110269"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110269"
}