{
    "disease_id": "DOID:0111412",
    "recommended_name": {
        "id": "DOID:0111412",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111412",
        "name": "exudative vitreoretinopathy 1",
        "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111412",
            "name": "EVR1",
            "description": ""
        },
        {
            "id": "MONDO:0007589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007589",
            "name": "exudative vitreoretinopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007589",
            "name": "exudative vitreoretinopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007589",
            "name": "exudative vitreoretinopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007589",
            "name": "EVR1",
            "description": ""
        },
        {
            "id": "MIM:133780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133780",
            "name": "Vitreoretinopathy, exudative 1",
            "description": "Vitreoretinopathy, exudative 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111412"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111412",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111412",
            "categories": []
        },
        {
            "id": "MONDO:0007589",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007589",
            "categories": []
        },
        {
            "id": "MIM:133780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/133780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IVK2-1",
            "uniprot_ac": "A0A0R4IVK2",
            "uniprot_id": "A0A0R4IVK2_DANRE",
            "refseq_ac": "NP_001292398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "frizzled homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fzd4",
                    "type": "recommended"
                },
                {
                    "name": "fz1",
                    "type": "synonym"
                },
                {
                    "name": "fzd4",
                    "type": "synonym"
                },
                {
                    "name": "zg01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IVK2-1",
            "evidence": [
                {
                    "id": "0111412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61088-1",
            "uniprot_ac": "Q61088",
            "uniprot_id": "FZD4_MOUSE",
            "refseq_ac": "NP_032081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "fz-4",
                    "type": "synonym"
                },
                {
                    "name": "mFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd4",
                    "type": "recommended"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "Fzd4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61088-1",
            "evidence": [
                {
                    "id": "0111412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75197-1",
            "uniprot_ac": "O75197",
            "uniprot_id": "LRP5_HUMAN",
            "refseq_ac": "NP_001278831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "Low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP5",
                    "type": "recommended"
                },
                {
                    "name": "BMND1",
                    "type": "synonym"
                },
                {
                    "name": "EVR1",
                    "type": "synonym"
                },
                {
                    "name": "EVR4",
                    "type": "synonym"
                },
                {
                    "name": "HBM",
                    "type": "synonym"
                },
                {
                    "name": "LR3",
                    "type": "synonym"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "LRP5",
                    "type": "synonym"
                },
                {
                    "name": "LRP7",
                    "type": "synonym"
                },
                {
                    "name": "OPPG",
                    "type": "synonym"
                },
                {
                    "name": "OPS",
                    "type": "synonym"
                },
                {
                    "name": "OPTA1",
                    "type": "synonym"
                },
                {
                    "name": "PCLD4",
                    "type": "synonym"
                },
                {
                    "name": "VBCH2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75197-1",
            "evidence": [
                {
                    "id": "133780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133780"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULV1-1",
            "uniprot_ac": "Q9ULV1",
            "uniprot_id": "FZD4_HUMAN",
            "refseq_ac": "NP_036325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "FzE4",
                    "type": "synonym"
                },
                {
                    "name": "WNT receptor frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 4, seven transmembrane spanning receptor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FZD4",
                    "type": "recommended"
                },
                {
                    "name": "CD344",
                    "type": "synonym"
                },
                {
                    "name": "EVR1",
                    "type": "synonym"
                },
                {
                    "name": "FEVR",
                    "type": "synonym"
                },
                {
                    "name": "FZD4S",
                    "type": "synonym"
                },
                {
                    "name": "FZD4",
                    "type": "synonym"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "FzE4",
                    "type": "synonym"
                },
                {
                    "name": "GPCR",
                    "type": "synonym"
                },
                {
                    "name": "hFz4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULV1-1",
            "evidence": [
                {
                    "id": "133780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133780"
                },
                {
                    "id": "0111412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZH0-1",
            "uniprot_ac": "Q9QZH0",
            "uniprot_id": "FZD4_RAT",
            "refseq_ac": "NP_072145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "fz-4",
                    "type": "synonym"
                },
                {
                    "name": "rFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd4",
                    "type": "recommended"
                },
                {
                    "name": "Fzd4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZH0-1",
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                {
                    "id": "0111412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NBW1-1",
            "uniprot_ac": "Q9NBW1",
            "uniprot_id": "FRIZ4_DROME",
            "refseq_ac": "NP_511068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "CG4626-PA",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled4",
                    "type": "synonym"
                },
                {
                    "name": "dFz4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 4, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 4",
                    "type": "synonym"
                },
                {
                    "name": "fz4-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fz4",
                    "type": "recommended"
                },
                {
                    "name": "CG4626",
                    "type": "synonym"
                },
                {
                    "name": "DFz4",
                    "type": "synonym"
                },
                {
                    "name": "Dfz4",
                    "type": "synonym"
                },
                {
                    "name": "Dm Fz4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4626",
                    "type": "synonym"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.10",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.11",
                    "type": "synonym"
                },
                {
                    "name": "fz4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NBW1-1",
            "evidence": [
                {
                    "id": "0111412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111412"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111412"
}