{
    "disease_id": "DOID:0050661",
    "recommended_name": {
        "id": "DOID:0050661",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050661",
        "name": "vitelliform macular dystrophy",
        "description": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."
    },
    "synonyms": [
        {
            "id": "DOID:0050661",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050661",
            "name": "Best disease",
            "description": ""
        },
        {
            "id": "DOID:0050661",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050661",
            "name": "Best macular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0050661",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050661",
            "name": "juvenile-onset vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "vitelliform macular dystrophy 2",
            "description": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region."
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "BEST1 retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "BMD",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "BVMD",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "Best Vitelliform Macular Dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "Best disease",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "Best macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "early-onset vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "juvenile-onset vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "macular degeneration, polymorphic vitelline",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "macular dystrophy, vitelliform, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "polymorphic vitelline macular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "vitelliform macular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "vitelliform macular dystrophy, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "vitelliform macular dystrophy, juvenile-onset",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "vitelliform macular dystrophy, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "VMD2",
            "description": ""
        },
        {
            "id": "MONDO:0007931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "name": "macular dystrophy, vitelliform, 2",
            "description": ""
        },
        {
            "id": "MONDO:0007933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007933",
            "name": "vitelliform macular dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007933",
            "name": "VMD1",
            "description": ""
        },
        {
            "id": "MONDO:0007933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007933",
            "name": "macular dystrophy, vitelliform, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007933",
            "name": "vitelliform macular dystrophy, atypical",
            "description": ""
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "vitelliform macular dystrophy 4",
            "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene."
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "IMPG1 vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "macular dystrophy, vitelliform, 4",
            "description": ""
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "macular dystrophy, vitelliform, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "vitelliform macular dystrophy caused by mutation in IMPG1",
            "description": ""
        },
        {
            "id": "MONDO:0014508",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "name": "VMD4",
            "description": ""
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "vitelliform macular dystrophy 5",
            "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene."
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "IMPG2 vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "macular dystrophy, vitelliform, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "macular dystrophy, vitelliform, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "vitelliform macular dystrophy caused by mutation in IMPG2",
            "description": ""
        },
        {
            "id": "MONDO:0014509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "name": "VMD5",
            "description": ""
        },
        {
            "id": "MONDO:0024561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024561",
            "name": "vitelliform macular dystrophy 3",
            "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
        },
        {
            "id": "MONDO:0024561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024561",
            "name": "PRPH2 vitelliform macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0024561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024561",
            "name": "vitelliform macular dystrophy caused by mutation in PRPH2",
            "description": ""
        },
        {
            "id": "MONDO:0024561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024561",
            "name": "VMD3",
            "description": ""
        },
        {
            "id": "MIM:153700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/153700",
            "name": "Macular dystrophy, vitelliform, 2",
            "description": "Macular dystrophy, vitelliform, 2"
        },
        {
            "id": "MIM:616151",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616151",
            "name": "Macular dystrophy, vitelliform, 4",
            "description": "Macular dystrophy, vitelliform, 4"
        },
        {
            "id": "MIM:616152",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616152",
            "name": "Macular dystrophy, vitelliform, 5",
            "description": "Macular dystrophy, vitelliform, 5"
        },
        {
            "id": "MIM:608161",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608161",
            "name": "Macular dystrophy, vitelliform, 3",
            "description": "Macular dystrophy, vitelliform, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050661"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050661",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050661",
            "categories": []
        },
        {
            "id": "MONDO:0007931",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007931",
            "categories": []
        },
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007933",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0014508",
            "categories": []
        },
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014509",
            "categories": []
        },
        {
            "id": "MONDO:0024561",
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            "url": "https://monarchinitiative.org/disease/MONDO:0024561",
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        },
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            "id": "MIM:608161",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608161",
            "categories": []
        }
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    "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]"
                }
            ],
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                {
                    "name": "Bestrophin homolog",
                    "type": "recommended"
                },
                {
                    "name": "bestrophin-4 isoform X1",
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            ],
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                    "name": "best1",
                    "type": "recommended"
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                    "name": "best1",
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                    "id": "0050661",
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        {
            "uniprot_canonical_ac": "A9JRB3-1",
            "uniprot_ac": "A9JRB3",
            "uniprot_id": "HTR1B_DANRE",
            "refseq_ac": "NP_001104652",
            "glycoprotein": "no",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Serine protease HTRA1B",
                    "type": "recommended"
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                    "name": "3.4.21.-",
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                {
                    "name": "High-temperature requirement A serine peptidase 1B",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1B",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1B precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "htra1b",
                    "type": "recommended"
                },
                {
                    "name": "htra1b",
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                },
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                    "name": "zgc:172061",
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                    "id": "0050661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050661"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q6GMI0-1",
            "uniprot_ac": "Q6GMI0",
            "uniprot_id": "HTR1A_DANRE",
            "refseq_ac": "NP_001002219",
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            "species": [
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA1A",
                    "type": "recommended"
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                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "High-temperature requirement A serine peptidase 1A",
                    "type": "synonym"
                },
                {
                    "name": "HtrA serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 11",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1A",
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                },
                {
                    "name": "serine protease 11",
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                    "name": "serine protease HTRA1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1A",
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            ],
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                    "name": "htra1a",
                    "type": "recommended"
                },
                {
                    "name": "htra1a",
                    "type": "synonym"
                },
                {
                    "name": "htra1",
                    "type": "synonym"
                },
                {
                    "name": "prss11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92029",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AJ68-1",
            "uniprot_ac": "A0A8M3AJ68",
            "uniprot_id": "A0A8M3AJ68_DANRE",
            "refseq_ac": "XP_009291488",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 1",
                    "type": "recommended"
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                {
                    "name": "Sialoprotein associated with cones and rods",
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                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "impg1b",
                    "type": "recommended"
                },
                {
                    "name": "impg1b",
                    "type": "synonym"
                }
            ],
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                    "id": "0050661",
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            "uniprot_ac": "A0A8M9Q7I3",
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            "species": [
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
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                    "name": "Interphotoreceptor matrix proteoglycan 2",
                    "type": "recommended"
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                    "name": "Sialoprotein associated with cones and rods proteoglycan",
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                },
                {
                    "name": "uncharacterized protein impg2b isoform X1",
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                    "name": "impg2b",
                    "type": "recommended"
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                    "id": "0050661",
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            ]
        },
        {
            "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"
                }
            ],
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                {
                    "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": [
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                    "id": "0050661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80XH2-1",
            "uniprot_ac": "Q80XH2",
            "uniprot_id": "IMPG2_MOUSE",
            "refseq_ac": "NP_777365",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 2",
                    "type": "recommended"
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}