{
    "disease_id": "DOID:0110258",
    "recommended_name": {
        "id": "DOID:0110258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110258",
        "name": "cataract 10 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110258",
            "name": "CTRCT10",
            "description": ""
        },
        {
            "id": "MONDO:0010948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "name": "cataract 10 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene."
        },
        {
            "id": "MONDO:0010948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "name": "CRYBA1 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0010948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "name": "CTRCT10",
            "description": ""
        },
        {
            "id": "MONDO:0010948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYBA1",
            "description": ""
        },
        {
            "id": "MONDO:0010948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "name": "cataract 10, multiple types",
            "description": ""
        },
        {
            "id": "MIM:600881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600881",
            "name": "Cataract 10, multiple types",
            "description": "Cataract 10, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110258"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110258",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110258",
            "categories": []
        },
        {
            "id": "MONDO:0010948",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010948",
            "categories": []
        },
        {
            "id": "MIM:600881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P02525-1",
            "uniprot_ac": "P02525",
            "uniprot_id": "CRBA1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A1-crystallin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba1",
                    "type": "recommended"
                }
            ],
            "record_id": "P02525-1",
            "evidence": [
                {
                    "id": "0110258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05813-1",
            "uniprot_ac": "P05813",
            "uniprot_id": "CRBA1_HUMAN",
            "refseq_ac": "NP_005199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A3",
                    "type": "recommended"
                },
                {
                    "name": "beta crystallin A3 chain transcript CN",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin A3 chain transcript LAM",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin A3 chain transcript PS",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin A3 chain transcript TC",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A3",
                    "type": "synonym"
                },
                {
                    "name": "crystallin beta A3/A1",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, beta A3",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBA1",
                    "type": "recommended"
                },
                {
                    "name": "CRYB1",
                    "type": "synonym"
                },
                {
                    "name": "CRYBA1",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT10",
                    "type": "synonym"
                }
            ],
            "record_id": "P05813-1",
            "evidence": [
                {
                    "id": "600881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600881"
                },
                {
                    "id": "0110258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14881-1",
            "uniprot_ac": "P14881",
            "uniprot_id": "CRBA1_RAT",
            "refseq_ac": "NP_037188",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A3",
                    "type": "recommended"
                },
                {
                    "name": "beta-A3 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba1",
                    "type": "recommended"
                },
                {
                    "name": "BA3A1C",
                    "type": "synonym"
                },
                {
                    "name": "Cryba1",
                    "type": "synonym"
                },
                {
                    "name": "beta-A3",
                    "type": "synonym"
                }
            ],
            "record_id": "P14881-1",
            "evidence": [
                {
                    "id": "0110258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15087-1",
            "uniprot_ac": "P15087",
            "uniprot_id": "CBPE_RAT",
            "refseq_ac": "NP_037260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase E",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.10",
                    "type": "synonym"
                },
                {
                    "name": "CPE",
                    "type": "synonym"
                },
                {
                    "name": "CPH",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase H",
                    "type": "synonym"
                },
                {
                    "name": "Enkephalin convertase",
                    "type": "synonym"
                },
                {
                    "name": "Prohormone-processing carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase E precursor",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase H",
                    "type": "synonym"
                },
                {
                    "name": "enkephalin convertase",
                    "type": "synonym"
                },
                {
                    "name": "prohormone-processing carboxypeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpe",
                    "type": "recommended"
                },
                {
                    "name": "CARBE",
                    "type": "synonym"
                },
                {
                    "name": "Cpe",
                    "type": "synonym"
                },
                {
                    "name": "Cph",
                    "type": "synonym"
                }
            ],
            "record_id": "P15087-1",
            "evidence": [
                {
                    "id": "0110258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110258"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110258"
}