{
    "disease_id": "DOID:0110271",
    "recommended_name": {
        "id": "DOID:0110271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110271",
        "name": "cataract 23",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110271",
            "name": "CTRCT23",
            "description": ""
        },
        {
            "id": "DOID:0110271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110271",
            "name": "lamellar cataract 23",
            "description": ""
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "cataract 23",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene."
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "CRYBA4 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "CTRCT23",
            "description": ""
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "cataract 23",
            "description": ""
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "cataract type 23",
            "description": ""
        },
        {
            "id": "MONDO:0012489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "name": "early-onset non-syndromic cataract caused by mutation in CRYBA4",
            "description": ""
        },
        {
            "id": "MIM:610425",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610425",
            "name": "Cataract 23, multiple types",
            "description": "Cataract 23, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110271",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110271",
            "categories": []
        },
        {
            "id": "MONDO:0012489",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012489",
            "categories": []
        },
        {
            "id": "MIM:610425",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610425",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJV0-1",
            "uniprot_ac": "Q9JJV0",
            "uniprot_id": "CRBA4_MOUSE",
            "refseq_ac": "NP_001299813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A4",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba4",
                    "type": "recommended"
                },
                {
                    "name": "Cryba4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJV0-1",
            "evidence": [
                {
                    "id": "0110271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53673-1",
            "uniprot_ac": "P53673",
            "uniprot_id": "CRBA4_HUMAN",
            "refseq_ac": "NP_001877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A4",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin A4 chain transcript PS",
                    "type": "synonym"
                },
                {
                    "name": "beta crystallin alpha 4 chain",
                    "type": "synonym"
                },
                {
                    "name": "beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A4",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, beta polypeptide A4",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBA4",
                    "type": "recommended"
                },
                {
                    "name": "CRYBA4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT23",
                    "type": "synonym"
                },
                {
                    "name": "CYRBA4",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCT4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53673-1",
            "evidence": [
                {
                    "id": "610425",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610425"
                },
                {
                    "id": "0110271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56374-1",
            "uniprot_ac": "P56374",
            "uniprot_id": "CRBA4_RAT",
            "refseq_ac": "NP_113877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin A4",
                    "type": "recommended"
                },
                {
                    "name": "Beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-A4 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin A4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryba4",
                    "type": "recommended"
                },
                {
                    "name": "Cryba4",
                    "type": "synonym"
                }
            ],
            "record_id": "P56374-1",
            "evidence": [
                {
                    "id": "0110271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32198-1",
            "uniprot_ac": "P32198",
            "uniprot_id": "CPT1A_RAT",
            "refseq_ac": "NP_113747",
            "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, liver isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT I",
                    "type": "synonym"
                },
                {
                    "name": "CPT1-L",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-L",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine O-palmitoyltransferase I, liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1A",
                    "type": "synonym"
                },
                {
                    "name": "Succinyltransferase CPT1A",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1, liver",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1a, liver",
                    "type": "synonym"
                },
                {
                    "name": "succinyltransferase CPT1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpt1a",
                    "type": "recommended"
                },
                {
                    "name": "CPT-Ia",
                    "type": "synonym"
                },
                {
                    "name": "Cpt-1",
                    "type": "synonym"
                },
                {
                    "name": "Cpt1a",
                    "type": "synonym"
                },
                {
                    "name": "Cpt1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32198-1",
            "evidence": [
                {
                    "id": "0110271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110271"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110271"
}