{
    "disease_id": "DOID:0110237",
    "recommended_name": {
        "id": "DOID:0110237",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110237",
        "name": "cataract 42",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110237",
            "name": "CTRCT42",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "cataract 42",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene."
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "CRYBA2 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "CTRCT42",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "cataract 42",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "cataract type 42",
            "description": ""
        },
        {
            "id": "MONDO:0007283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYBA2",
            "description": ""
        },
        {
            "id": "MIM:115900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115900",
            "name": "Cataract 42",
            "description": "Cataract 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110237"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110237",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110237",
            "categories": []
        },
        {
            "id": "MONDO:0007283",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007283",
            "categories": []
        },
        {
            "id": "MIM:115900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/115900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJV1-1",
            "uniprot_ac": "Q9JJV1",
            "uniprot_id": "CRBA2_MOUSE",
            "refseq_ac": "NP_067516",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-A2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A2",
                    "type": "synonym"
                },
                {
                    "name": "betaA2-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba2",
                    "type": "recommended"
                },
                {
                    "name": "Cryba2",
                    "type": "synonym"
                },
                {
                    "name": "E130107M19Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJV1-1",
            "evidence": [
                {
                    "id": "0110237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53672-1",
            "uniprot_ac": "P53672",
            "uniprot_id": "CRBA2_HUMAN",
            "refseq_ac": "NP_476434",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A2",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBA2",
                    "type": "recommended"
                },
                {
                    "name": "CRYBA2",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT42",
                    "type": "synonym"
                }
            ],
            "record_id": "P53672-1",
            "evidence": [
                {
                    "id": "115900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/115900"
                },
                {
                    "id": "0110237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGQ0-1",
            "uniprot_ac": "Q8CGQ0",
            "uniprot_id": "Q8CGQ0_RAT",
            "refseq_ac": "NP_775163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A2",
                    "type": "synonym"
                },
                {
                    "name": "betaA2-crystallin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba2",
                    "type": "recommended"
                },
                {
                    "name": "Cryba2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGQ0-1",
            "evidence": [
                {
                    "id": "0110237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07756-1",
            "uniprot_ac": "P07756",
            "uniprot_id": "CPSM_RAT",
            "refseq_ac": "NP_058768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbamoyl-phosphate synthase [ammonia], mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.16",
                    "type": "synonym"
                },
                {
                    "name": "CPSase I",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl-phosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthase [ammonia], mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthase [ammonia], mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthetase 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl-phosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "carbamyl phosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "carbamyl-phosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "carboamyl-phosphate synthetase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cps1",
                    "type": "recommended"
                },
                {
                    "name": "Cps1",
                    "type": "synonym"
                },
                {
                    "name": "cps-1",
                    "type": "synonym"
                },
                {
                    "name": "cps",
                    "type": "synonym"
                }
            ],
            "record_id": "P07756-1",
            "evidence": [
                {
                    "id": "0110237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110237"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110237"
}