{
    "disease_id": "DOID:0110855",
    "recommended_name": {
        "id": "DOID:0110855",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110855",
        "name": "posterior polymorphous corneal dystrophy 1",
        "description": "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0110855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110855",
            "name": "Corneal Endothelial Dystrophy 1, Autosomal Dominant",
            "description": ""
        },
        {
            "id": "DOID:0110855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110855",
            "name": "Maumenee Corneal Dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110855",
            "name": "CHED1",
            "description": ""
        },
        {
            "id": "DOID:0110855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110855",
            "name": "PPCD1",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "posterior polymorphous corneal dystrophy 1",
            "description": "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23."
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "Maumenee corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "PPCD1",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "Ppcd1",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "corneal dystrophy, posterior polymorphous, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "posterior polymorphous corneal dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "name": "corneal dystrophy, POSTERIOR polymorphous, 1",
            "description": ""
        },
        {
            "id": "MIM:122000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122000",
            "name": "Corneal dystrophy, posterior polymorphous, 1",
            "description": "Corneal dystrophy, posterior polymorphous, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110855"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110855",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110855",
            "categories": []
        },
        {
            "id": "MONDO:0007378",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007378",
            "categories": []
        },
        {
            "id": "MIM:122000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/122000",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "O42250-1",
            "uniprot_ac": "O42250",
            "uniprot_id": "VSX1_DANRE",
            "refseq_ac": "NP_571408",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Visual system homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor VSX1",
                    "type": "synonym"
                },
                {
                    "name": "etID309864.17",
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                    "type": "synonym"
                }
            ],
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                    "name": "vsx1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
            ],
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                    "id": "0110855",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110855"
                }
            ]
        },
        {
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            "uniprot_ac": "Q8CIV7",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                },
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                    "type": "synonym"
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                {
                    "name": "Zinc finger protein 339",
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                },
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                    "name": "Zinc finger protein mOVO",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
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                    "type": "synonym"
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                },
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                {
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                    "type": "synonym"
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            ],
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                {
                    "name": "Ovol2",
                    "type": "recommended"
                },
                {
                    "name": "1700108N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "1810007D21Rik",
                    "type": "synonym"
                },
                {
                    "name": "M-OVO-A",
                    "type": "synonym"
                },
                {
                    "name": "M-OVO-B",
                    "type": "synonym"
                },
                {
                    "name": "M-OVO",
                    "type": "synonym"
                },
                {
                    "name": "MOVO",
                    "type": "synonym"
                },
                {
                    "name": "Ovo2",
                    "type": "synonym"
                },
                {
                    "name": "Ovol2",
                    "type": "synonym"
                },
                {
                    "name": "Zfp339",
                    "type": "synonym"
                },
                {
                    "name": "Znf339",
                    "type": "synonym"
                },
                {
                    "name": "movo2",
                    "type": "synonym"
                }
            ],
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                    "id": "0110855",
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                }
            ]
        },
        {
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            "uniprot_ac": "Q91V10",
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            "refseq_ac": "NP_473409",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Visual system homeobox 1",
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                {
                    "name": "Retinal inner nuclear layer homeobox protein",
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                    "name": "Vsx1",
                    "type": "recommended"
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                {
                    "name": "CHX10-like",
                    "type": "synonym"
                },
                {
                    "name": "Rinx",
                    "type": "synonym"
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                {
                    "name": "Vsx1",
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            ],
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        },
        {
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                    "name": "Homo sapiens",
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            ],
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                    "name": "corneal endothelial dystrophy 1 (autosomal dominant)",
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                    "name": "hOvo2",
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                {
                    "name": "zinc finger protein 339",
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            ],
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                {
                    "name": "OVOL2",
                    "type": "recommended"
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                },
                {
                    "name": "CHED2",
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                },
                {
                    "name": "CHED",
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                },
                {
                    "name": "EUROIMAGE566589",
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                    "name": "OVOL2",
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                    "id": "0110855",
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                    "name": "Rattus norvegicus",
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            "uniprot_ac": "P51521",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Transcriptional regulator ovo",
                    "type": "recommended"
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                {
                    "name": "CG6824-PD",
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                {
                    "name": "Transcriptional repressor shavenbaby",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor svb",
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                    "name": "ovo, isoform D",
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                    "type": "synonym"
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                    "name": "Shv",
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                    "name": "Svb/Ovo",
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                    "name": "fs(1)M38",
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                    "name": "CAASDS",
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                    "name": "KTCN",
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                    "name": "PPCD1",
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                    "name": "PPCD",
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                    "name": "PPD",
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                    "name": "RINX",
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                    "id": "0110855",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110855"
}