{
    "disease_id": "DOID:0110239",
    "recommended_name": {
        "id": "DOID:0110239",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110239",
        "name": "cataract 12 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110239",
            "name": "CTRCT12",
            "description": ""
        },
        {
            "id": "MONDO:0012701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012701",
            "name": "cataract 12 multiple types",
            "description": "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22."
        },
        {
            "id": "MONDO:0012701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012701",
            "name": "CTRCT12",
            "description": ""
        },
        {
            "id": "MONDO:0012701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012701",
            "name": "cataract 12, multiple types",
            "description": ""
        },
        {
            "id": "MIM:611597",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611597",
            "name": "Cataract 12, multiple types",
            "description": "Cataract 12, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110239"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110239",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110239",
            "categories": []
        },
        {
            "id": "MONDO:0012701",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012701",
            "categories": []
        },
        {
            "id": "MIM:611597",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611597",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A286YA92-1",
            "uniprot_ac": "A0A286YA92",
            "uniprot_id": "A0A286YA92_DANRE",
            "refseq_ac": "XP_009296890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phakinin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "phakinin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bfsp2",
                    "type": "recommended"
                },
                {
                    "name": "bfsp2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103750",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A286YA92-1",
            "evidence": [
                {
                    "id": "0110239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVD9-1",
            "uniprot_ac": "Q6NVD9",
            "uniprot_id": "BFSP2_MOUSE",
            "refseq_ac": "NP_001002896",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phakinin",
                    "type": "recommended"
                },
                {
                    "name": "49 kDa cytoskeletal protein",
                    "type": "synonym"
                },
                {
                    "name": "Beaded filament structural protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "Lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "phakinin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phakinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bfsp2",
                    "type": "recommended"
                },
                {
                    "name": "Bfsp2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVD9-1",
            "evidence": [
                {
                    "id": "0110239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13515-1",
            "uniprot_ac": "Q13515",
            "uniprot_id": "BFSP2_HUMAN",
            "refseq_ac": "NP_003562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phakinin",
                    "type": "recommended"
                },
                {
                    "name": "49 kDa cytoskeletal protein",
                    "type": "synonym"
                },
                {
                    "name": "Beaded filament structural protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "Lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament protein CP49",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein 2, phakinin",
                    "type": "synonym"
                },
                {
                    "name": "bfps2, Cytoskeletal protein, 49-kD",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "phakinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BFSP2",
                    "type": "recommended"
                },
                {
                    "name": "BFSP2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT12",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                },
                {
                    "name": "PHAKOSIN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13515-1",
            "evidence": [
                {
                    "id": "611597",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611597"
                },
                {
                    "id": "0110239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LTB6-1",
            "uniprot_ac": "A0ABK0LTB6",
            "uniprot_id": "A0ABK0LTB6_RAT",
            "refseq_ac": "NP_001000236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 299",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr299",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr299",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or13a19c",
                    "type": "recommended"
                },
                {
                    "name": "Olr299",
                    "type": "synonym"
                },
                {
                    "name": "Or13a19c",
                    "type": "synonym"
                },
                {
                    "name": "ratchr1-200550481-200549552_ORF",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LTB6-1",
            "evidence": [
                {
                    "id": "0110239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZER2-1",
            "uniprot_ac": "D3ZER2",
            "uniprot_id": "BFSP2_RAT",
            "refseq_ac": "NP_001264363",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phakinin",
                    "type": "recommended"
                },
                {
                    "name": "49 kDa cytoskeletal protein",
                    "type": "synonym"
                },
                {
                    "name": "Beaded filament structural protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "Lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein 2, phakinin",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 47",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded filament protein CP 49",
                    "type": "synonym"
                },
                {
                    "name": "lens intermediate filament-like light",
                    "type": "synonym"
                },
                {
                    "name": "phakinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bfsp2",
                    "type": "recommended"
                },
                {
                    "name": "Bfsp2",
                    "type": "synonym"
                },
                {
                    "name": "CP47",
                    "type": "synonym"
                },
                {
                    "name": "CP49",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-L",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZER2-1",
            "evidence": [
                {
                    "id": "0110239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110239"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110239"
}