{
    "disease_id": "DOID:0050664",
    "recommended_name": {
        "id": "DOID:0050664",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050664",
        "name": "Bietti crystalline corneoretinal dystrophy",
        "description": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0050664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050664",
            "name": "Bietti's crystalline dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "BCD",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline retinopathy",
            "description": ""
        },
        {
            "id": "MIM:210370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210370",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": "Bietti crystalline corneoretinal dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050664"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050664",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050664",
            "categories": []
        },
        {
            "id": "MONDO:0008865",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "categories": []
        },
        {
            "id": "MIM:210370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DBW0-1",
            "uniprot_ac": "Q9DBW0",
            "uniprot_id": "CP4V2_MOUSE",
            "refseq_ac": "NP_598730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4V2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.79",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4V2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4V3",
                    "type": "synonym"
                },
                {
                    "name": "docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4v2",
                    "type": "recommended"
                },
                {
                    "name": "Cyp4v2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4v3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBW0-1",
            "evidence": [
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWL3-1",
            "uniprot_ac": "Q6ZWL3",
            "uniprot_id": "CP4V2_HUMAN",
            "refseq_ac": "NP_997235",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4V2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.79",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4V2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 4, subfamily V, polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP4V2",
                    "type": "recommended"
                },
                {
                    "name": "BCD",
                    "type": "synonym"
                },
                {
                    "name": "CYP4AH1",
                    "type": "synonym"
                },
                {
                    "name": "CYP4V2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWL3-1",
            "evidence": [
                {
                    "id": "210370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210370"
                },
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10614-1",
            "uniprot_ac": "P10614",
            "uniprot_id": "CP51_YEAST",
            "refseq_ac": "NP_011871",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lanosterol 14-alpha demethylase CYP51",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.154",
                    "type": "synonym"
                },
                {
                    "name": "CYPLI",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 51",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-14DM",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-LIA1",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Lanosterol C14-C32 lyase",
                    "type": "synonym"
                },
                {
                    "name": "Sterol 14-alpha demethylase",
                    "type": "synonym"
                },
                {
                    "name": "sterol 14-demethylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG11",
                    "type": "recommended"
                },
                {
                    "name": "CYP51",
                    "type": "synonym"
                },
                {
                    "name": "ERG11",
                    "type": "synonym"
                }
            ],
            "record_id": "P10614-1",
            "evidence": [
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2RRT9-1",
            "uniprot_ac": "A2RRT9",
            "uniprot_id": "CP4V2_RAT",
            "refseq_ac": "NP_001129072",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4V2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.79",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4V2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4V3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-like protein",
                    "type": "synonym"
                },
                {
                    "name": "docosahexaenoic acid omega-hydroxylase CYP4V2",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4v2",
                    "type": "recommended"
                },
                {
                    "name": "Cyp4v2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4v3",
                    "type": "synonym"
                }
            ],
            "record_id": "A2RRT9-1",
            "evidence": [
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27589-1",
            "uniprot_ac": "Q27589",
            "uniprot_id": "CP4D2_DROME",
            "refseq_ac": "NP_001284806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4d2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3466-PB",
                    "type": "synonym"
                },
                {
                    "name": "CYPIVD2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4d2-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4D2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4d2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-4d2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4d2",
                    "type": "recommended"
                },
                {
                    "name": "4d2",
                    "type": "synonym"
                },
                {
                    "name": "CG3466",
                    "type": "synonym"
                },
                {
                    "name": "CYP4D2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4D2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4d2",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-P450-4D2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3466",
                    "type": "synonym"
                },
                {
                    "name": "EG:152A3.4",
                    "type": "synonym"
                },
                {
                    "name": "P-450",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27589-1",
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                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYY4-1",
            "uniprot_ac": "Q9VYY4",
            "uniprot_id": "C4G15_DROME",
            "refseq_ac": "NP_572721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4g15",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG11715-PA",
                    "type": "synonym"
                },
                {
                    "name": "CYPIVG15",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4g15-PA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4g15, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4g15",
                    "type": "recommended"
                },
                {
                    "name": "152658_at",
                    "type": "synonym"
                },
                {
                    "name": "4g15",
                    "type": "synonym"
                },
                {
                    "name": "CG11715",
                    "type": "synonym"
                },
                {
                    "name": "CYP4G15",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4g15",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11715",
                    "type": "synonym"
                },
                {
                    "name": "cyp4g15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYY4-1",
            "evidence": [
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA27-1",
            "uniprot_ac": "Q9VA27",
            "uniprot_id": "CP4C3_DROME",
            "refseq_ac": "NP_524598",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4c3",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1438-PA",
                    "type": "synonym"
                },
                {
                    "name": "CYPIVC3",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4c3-PA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4c3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-4c3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4c3",
                    "type": "recommended"
                },
                {
                    "name": "4C3",
                    "type": "synonym"
                },
                {
                    "name": "CG1438",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4c3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1438",
                    "type": "synonym"
                },
                {
                    "name": "P-450",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                },
                {
                    "name": "cyp4c3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA27-1",
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                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXY0-1",
            "uniprot_ac": "Q9VXY0",
            "uniprot_id": "CP4S3_DROME",
            "refseq_ac": "NP_573003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cytochrome P450 4s3",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
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                },
                {
                    "name": "CG9081-PA",
                    "type": "synonym"
                },
                {
                    "name": "CYPIVS3",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4s3-PA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4s3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4s3",
                    "type": "recommended"
                },
                {
                    "name": "4s3",
                    "type": "synonym"
                },
                {
                    "name": "CG9081",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4s3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9081",
                    "type": "synonym"
                },
                {
                    "name": "RE63964",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27606-1",
            "uniprot_ac": "Q27606",
            "uniprot_id": "CP4E2_DROME",
            "refseq_ac": "NP_001286196",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 4e2",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG2060-PB",
                    "type": "synonym"
                },
                {
                    "name": "CYPIVE2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4e2-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 4e2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-4e2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp4e2",
                    "type": "recommended"
                },
                {
                    "name": "4e2",
                    "type": "synonym"
                },
                {
                    "name": "CG2060",
                    "type": "synonym"
                },
                {
                    "name": "CYP4E2",
                    "type": "synonym"
                },
                {
                    "name": "CyP4e2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4E2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp4e2",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-P450-4E2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2060",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2060",
                    "type": "synonym"
                },
                {
                    "name": "P-450",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                },
                {
                    "name": "cyp4e2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27606-1",
            "evidence": [
                {
                    "id": "0050664",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050664"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMS8-1",
            "uniprot_ac": "Q9VMS8",
            "uniprot_id": "C4AC2_DROME",
            "refseq_ac": "NP_608917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
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}