{
    "disease_id": "DOID:0110264",
    "recommended_name": {
        "id": "DOID:0110264",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110264",
        "name": "cataract 33",
        "description": "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110264",
            "name": "CTRCT33",
            "description": ""
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "cataract 33",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene."
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "BFSP1 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "CTRCT33",
            "description": ""
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "cataract 33",
            "description": ""
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "cataract type 33",
            "description": ""
        },
        {
            "id": "MONDO:0012665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "name": "early-onset non-syndromic cataract caused by mutation in BFSP1",
            "description": ""
        },
        {
            "id": "MIM:611391",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611391",
            "name": "Cataract 33, multiple types",
            "description": "Cataract 33, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110264"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110264",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110264",
            "categories": []
        },
        {
            "id": "MONDO:0012665",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012665",
            "categories": []
        },
        {
            "id": "MIM:611391",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611391",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2AMT1-1",
            "uniprot_ac": "A2AMT1",
            "uniprot_id": "BFSP1_MOUSE",
            "refseq_ac": "NP_001277990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filensin",
                    "type": "recommended"
                },
                {
                    "name": "Beaded filament structural protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CP95",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded-filament structural protein CP 95",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein in lens-CP94",
                    "type": "synonym"
                },
                {
                    "name": "filensin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "filensin",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded-filament structural protein CP 95",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bfsp1",
                    "type": "recommended"
                },
                {
                    "name": "Bfsp1",
                    "type": "synonym"
                },
                {
                    "name": "CP95",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AMT1-1",
            "evidence": [
                {
                    "id": "0110264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12934-1",
            "uniprot_ac": "Q12934",
            "uniprot_id": "BFSP1_HUMAN",
            "refseq_ac": "NP_001155177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filensin",
                    "type": "recommended"
                },
                {
                    "name": "Beaded filament structural protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CP115",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-H",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded-filament structural protein CP 115",
                    "type": "synonym"
                },
                {
                    "name": "Lens intermediate filament-like heavy",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein 1, filensin",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal protein, 115 KD",
                    "type": "synonym"
                },
                {
                    "name": "filensin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded-filament structural protein CP 115",
                    "type": "synonym"
                },
                {
                    "name": "lens intermediate filament-like heavy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BFSP1",
                    "type": "recommended"
                },
                {
                    "name": "BFSP1",
                    "type": "synonym"
                },
                {
                    "name": "CP115",
                    "type": "synonym"
                },
                {
                    "name": "CP94",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT33",
                    "type": "synonym"
                },
                {
                    "name": "LIFL-H",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12934-1",
            "evidence": [
                {
                    "id": "611391",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611391"
                },
                {
                    "id": "0110264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02435-1",
            "uniprot_ac": "Q02435",
            "uniprot_id": "BFSP1_RAT",
            "refseq_ac": "NP_113743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filensin",
                    "type": "recommended"
                },
                {
                    "name": "Beaded filament structural protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CP94",
                    "type": "synonym"
                },
                {
                    "name": "CP97 115-kDa",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded-filament structural protein CP 94",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein 1, filensin",
                    "type": "synonym"
                },
                {
                    "name": "filensin",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded-filament structural protein CP 94",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bfsp1",
                    "type": "recommended"
                },
                {
                    "name": "115-kDa",
                    "type": "synonym"
                },
                {
                    "name": "Bfsp1",
                    "type": "synonym"
                },
                {
                    "name": "CP94",
                    "type": "synonym"
                },
                {
                    "name": "CP95",
                    "type": "synonym"
                },
                {
                    "name": "CP97",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02435-1",
            "evidence": [
                {
                    "id": "0110264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5P4-1",
            "uniprot_ac": "Q9Y5P4",
            "uniprot_id": "CERT_HUMAN",
            "refseq_ac": "NP_001123577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "Goodpasture antigen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer (START) domain containing 11",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StARD11",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha 3 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hCERT",
                    "type": "synonym"
                },
                {
                    "name": "lipid-transfer protein CERTL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CERT1",
                    "type": "recommended"
                },
                {
                    "name": "CERT1",
                    "type": "synonym"
                },
                {
                    "name": "CERTL",
                    "type": "synonym"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "COL4A3BP",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "MRD34",
                    "type": "synonym"
                },
                {
                    "name": "NEDHSF",
                    "type": "synonym"
                },
                {
                    "name": "STARD11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5P4-1",
            "evidence": [
                {
                    "id": "0110264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110264"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110264"
}