{
    "disease_id": "DOID:0110270",
    "recommended_name": {
        "id": "DOID:0110270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110270",
        "name": "cataract 17 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110270",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110270",
            "name": "CTRCT17",
            "description": ""
        },
        {
            "id": "MONDO:0012688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "name": "cataract 17 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene."
        },
        {
            "id": "MONDO:0012688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "name": "CRYBB1 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "name": "CTRCT17",
            "description": ""
        },
        {
            "id": "MONDO:0012688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYBB1",
            "description": ""
        },
        {
            "id": "MONDO:0012688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "name": "cataract 17, multiple types",
            "description": ""
        },
        {
            "id": "MIM:611544",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611544",
            "name": "Cataract 17, multiple types",
            "description": "Cataract 17, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110270",
            "categories": []
        },
        {
            "id": "MONDO:0012688",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012688",
            "categories": []
        },
        {
            "id": "MIM:611544",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611544",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PDZ4-1",
            "uniprot_ac": "A0A8M1PDZ4",
            "uniprot_id": "A0A8M1PDZ4_DANRE",
            "refseq_ac": "NP_775338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B1",
                    "type": "synonym"
                },
                {
                    "name": "crystallin B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crybb1",
                    "type": "recommended"
                },
                {
                    "name": "crybb1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92706",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PDZ4-1",
            "evidence": [
                {
                    "id": "0110270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVJ5-1",
            "uniprot_ac": "Q9WVJ5",
            "uniprot_id": "CRBB1_MOUSE",
            "refseq_ac": "NP_001299822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb1",
                    "type": "recommended"
                },
                {
                    "name": "3110006K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "BB1CRY",
                    "type": "synonym"
                },
                {
                    "name": "Crybb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVJ5-1",
            "evidence": [
                {
                    "id": "0110270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53674-1",
            "uniprot_ac": "P53674",
            "uniprot_id": "CRBB1_HUMAN",
            "refseq_ac": "NP_001878",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B1",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBB1",
                    "type": "recommended"
                },
                {
                    "name": "CATCN3",
                    "type": "synonym"
                },
                {
                    "name": "CRYBB1",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT17",
                    "type": "synonym"
                }
            ],
            "record_id": "P53674-1",
            "evidence": [
                {
                    "id": "611544",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611544"
                },
                {
                    "id": "0110270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02523-1",
            "uniprot_ac": "P02523",
            "uniprot_id": "CRBB1_RAT",
            "refseq_ac": "NP_037068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-B1 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crybb1",
                    "type": "recommended"
                },
                {
                    "name": "CRYB11",
                    "type": "synonym"
                },
                {
                    "name": "CRYB1",
                    "type": "synonym"
                },
                {
                    "name": "Crybb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02523-1",
            "evidence": [
                {
                    "id": "0110270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63704-1",
            "uniprot_ac": "Q63704",
            "uniprot_id": "CPT1B_RAT",
            "refseq_ac": "NP_037332",
            "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 1, muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT I",
                    "type": "synonym"
                },
                {
                    "name": "CPT-Ibeta 1",
                    "type": "synonym"
                },
                {
                    "name": "CPT-Ibeta 3",
                    "type": "synonym"
                },
                {
                    "name": "CPT1-M",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-M",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine O-palmitoyltransferase I, muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1, muscle",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1B",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase I-like protein",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1b, muscle",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase I-like protein",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase Ibeta 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase Ibeta 2",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase Ibeta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpt1b",
                    "type": "recommended"
                },
                {
                    "name": "CPT-IB",
                    "type": "synonym"
                },
                {
                    "name": "Cpt1b",
                    "type": "synonym"
                },
                {
                    "name": "M-CPTI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63704-1",
            "evidence": [
                {
                    "id": "0110270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110270"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110270"
}