{
    "disease_id": "DOID:0050662",
    "recommended_name": {
        "id": "DOID:0050662",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050662",
        "name": "bestrophinopathy",
        "description": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "DOID:0050662",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050662",
            "name": "autosomal recessive bestrophinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "autosomal recessive bestrophinopathy",
            "description": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "retinopathy, Burgess-Black type",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "ARB",
            "description": ""
        },
        {
            "id": "MONDO:0012733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "name": "bestrophinopathy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611809",
            "name": "Bestrophinopathy, autosomal recessive",
            "description": "Bestrophinopathy, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050662"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050662",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050662",
            "categories": []
        },
        {
            "id": "MONDO:0012733",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012733",
            "categories": []
        },
        {
            "id": "MIM:611809",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611809",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q9T0-1",
            "uniprot_ac": "A0A2R8Q9T0",
            "uniprot_id": "A0A2R8Q9T0_DANRE",
            "refseq_ac": "XP_689098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bestrophin homolog",
                    "type": "recommended"
                },
                {
                    "name": "bestrophin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "best1",
                    "type": "recommended"
                },
                {
                    "name": "best1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q9T0-1",
            "evidence": [
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88870-1",
            "uniprot_ac": "O88870",
            "uniprot_id": "BEST1_MOUSE",
            "refseq_ac": "NP_036043",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bestrophin-1",
                    "type": "recommended"
                },
                {
                    "name": "Vitelliform macular dystrophy protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "best macular dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "vitelliform macular dystrophy 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vitelliform macular dystrophy protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Best1",
                    "type": "recommended"
                },
                {
                    "name": "Best1",
                    "type": "synonym"
                },
                {
                    "name": "Bmd1",
                    "type": "synonym"
                },
                {
                    "name": "Bmd",
                    "type": "synonym"
                },
                {
                    "name": "Vmd2",
                    "type": "synonym"
                },
                {
                    "name": "mBest1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88870-1",
            "evidence": [
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76090-1",
            "uniprot_ac": "O76090",
            "uniprot_id": "BEST1_HUMAN",
            "refseq_ac": "NP_001132915",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bestrophin-1",
                    "type": "recommended"
                },
                {
                    "name": "Best disease",
                    "type": "synonym"
                },
                {
                    "name": "TU15B",
                    "type": "synonym"
                },
                {
                    "name": "Vitelliform macular dystrophy protein 2",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vitelliform macular dystrophy protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEST1",
                    "type": "recommended"
                },
                {
                    "name": "ARB",
                    "type": "synonym"
                },
                {
                    "name": "BEST1",
                    "type": "synonym"
                },
                {
                    "name": "BEST",
                    "type": "synonym"
                },
                {
                    "name": "BMD",
                    "type": "synonym"
                },
                {
                    "name": "Best1V1Delta2",
                    "type": "synonym"
                },
                {
                    "name": "RP50",
                    "type": "synonym"
                },
                {
                    "name": "TU15B",
                    "type": "synonym"
                },
                {
                    "name": "VMD2",
                    "type": "synonym"
                }
            ],
            "record_id": "O76090-1",
            "evidence": [
                {
                    "id": "611809",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611809"
                },
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUM7-1",
            "uniprot_ac": "Q9VUM7",
            "uniprot_id": "Q9VUM7_DROME",
            "refseq_ac": "NP_730039",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bestrophin homolog",
                    "type": "recommended"
                },
                {
                    "name": "Best3-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG12327-PA",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Best3",
                    "type": "recommended"
                },
                {
                    "name": "Best3",
                    "type": "synonym"
                },
                {
                    "name": "CG12327",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12327",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12327",
                    "type": "synonym"
                },
                {
                    "name": "dBest3",
                    "type": "synonym"
                },
                {
                    "name": "dbest3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUM7-1",
            "evidence": [
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K651-1",
            "uniprot_ac": "A0A0B4K651",
            "uniprot_id": "A0A0B4K651_DROME",
            "refseq_ac": "NP_001247018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Best1-PC",
                    "type": "synonym"
                },
                {
                    "name": "Bestrophin 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "CG6264-PC",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Best1",
                    "type": "recommended"
                },
                {
                    "name": "Best1",
                    "type": "synonym"
                },
                {
                    "name": "CG6264",
                    "type": "synonym"
                },
                {
                    "name": "Dbest",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6264",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.380",
                    "type": "synonym"
                },
                {
                    "name": "best",
                    "type": "synonym"
                },
                {
                    "name": "dBest1",
                    "type": "synonym"
                },
                {
                    "name": "dbest1",
                    "type": "synonym"
                },
                {
                    "name": "dmBest1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K651-1",
            "evidence": [
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRW4-1",
            "uniprot_ac": "Q9VRW4",
            "uniprot_id": "Q9VRW4_DROME",
            "refseq_ac": "NP_729159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Best2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Bestrophin 2",
                    "type": "synonym"
                },
                {
                    "name": "CG10173-PA",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Best2",
                    "type": "recommended"
                },
                {
                    "name": "Best2",
                    "type": "synonym"
                },
                {
                    "name": "CG10173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10173",
                    "type": "synonym"
                },
                {
                    "name": "dBest2",
                    "type": "synonym"
                },
                {
                    "name": "dbest2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRW4-1",
            "evidence": [
                {
                    "id": "0050662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050662"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050662"
}