{
    "disease_id": "DOID:0110857",
    "recommended_name": {
        "id": "DOID:0110857",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110857",
        "name": "posterior polymorphous corneal dystrophy 3",
        "description": "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0110857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110857",
            "name": "PPCD3",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "posterior polymorphous corneal dystrophy 3",
            "description": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene."
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "PPCD3",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "Ppcd3",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "ZEB1 posterior polymorphous corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "corneal dystrophy, posterior polymorphous, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "posterior polymorphous corneal dystrophy caused by mutation in ZEB1",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "posterior polymorphous corneal dystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "name": "corneal dystrophy, POSTERIOR polymorphous, 3",
            "description": ""
        },
        {
            "id": "MIM:609141",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609141",
            "name": "Corneal dystrophy, posterior polymorphous, 3",
            "description": "Corneal dystrophy, posterior polymorphous, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110857"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110857",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110857",
            "categories": []
        },
        {
            "id": "MONDO:0012200",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012200",
            "categories": []
        },
        {
            "id": "MIM:609141",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609141",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QMZ5-1",
            "uniprot_ac": "F1QMZ5",
            "uniprot_id": "F1QMZ5_DANRE",
            "refseq_ac": "XP_001344107",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zeb1a",
                    "type": "recommended"
                },
                {
                    "name": "zeb1a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QMZ5-1",
            "evidence": [
                {
                    "id": "0110857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64318-1",
            "uniprot_ac": "Q64318",
            "uniprot_id": "ZEB1_MOUSE",
            "refseq_ac": "NP_035676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "Delta EF1",
                    "type": "synonym"
                },
                {
                    "name": "MEB1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-8",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeobox protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "twirler",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zeb1",
                    "type": "recommended"
                },
                {
                    "name": "3110032K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "AREB6",
                    "type": "synonym"
                },
                {
                    "name": "Areb6",
                    "type": "synonym"
                },
                {
                    "name": "BZP",
                    "type": "synonym"
                },
                {
                    "name": "MEB1",
                    "type": "synonym"
                },
                {
                    "name": "Nil2",
                    "type": "synonym"
                },
                {
                    "name": "TCF-8",
                    "type": "synonym"
                },
                {
                    "name": "Tcf18",
                    "type": "synonym"
                },
                {
                    "name": "Tcf8",
                    "type": "synonym"
                },
                {
                    "name": "Tw",
                    "type": "synonym"
                },
                {
                    "name": "ZEB",
                    "type": "synonym"
                },
                {
                    "name": "Zeb1",
                    "type": "synonym"
                },
                {
                    "name": "Zfhep",
                    "type": "synonym"
                },
                {
                    "name": "Zfhx1a",
                    "type": "synonym"
                },
                {
                    "name": "Zfx1a",
                    "type": "synonym"
                },
                {
                    "name": "Zfx1ha",
                    "type": "synonym"
                },
                {
                    "name": "[delta]EF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64318-1",
            "evidence": [
                {
                    "id": "0110857",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37275-1",
            "uniprot_ac": "P37275",
            "uniprot_id": "ZEB1_HUMAN",
            "refseq_ac": "NP_001121600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "NIL-2-A zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Negative regulator of IL2",
                    "type": "synonym"
                },
                {
                    "name": "TCF-8",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "delta-crystallin enhancer binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "negative regulator of IL2",
                    "type": "synonym"
                },
                {
                    "name": "posterior polymorphous corneal dystrophy 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 8 (represses interleukin 2 expression)",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain enhancer-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZEB1",
                    "type": "recommended"
                },
                {
                    "name": "AREB6",
                    "type": "synonym"
                },
                {
                    "name": "BZP",
                    "type": "synonym"
                },
                {
                    "name": "DELTAEF1",
                    "type": "synonym"
                },
                {
                    "name": "FECD6",
                    "type": "synonym"
                },
                {
                    "name": "NIL2A",
                    "type": "synonym"
                },
                {
                    "name": "PPCD3",
                    "type": "synonym"
                },
                {
                    "name": "TCF8",
                    "type": "synonym"
                },
                {
                    "name": "ZEB1",
                    "type": "synonym"
                },
                {
                    "name": "ZFHEP",
                    "type": "synonym"
                },
                {
                    "name": "ZFHX1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P37275-1",
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                {
                    "id": "609141",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609141"
                },
                {
                    "id": "0110857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62947-1",
            "uniprot_ac": "Q62947",
            "uniprot_id": "ZEB1_RAT",
            "refseq_ac": "NP_001295194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "TCF-8",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 8",
                    "type": "synonym"
                },
                {
                    "name": "Zfhep",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain enhancer-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 8 (represses interleukin 2 expression)",
                    "type": "synonym"
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                {
                    "name": "zfhep",
                    "type": "synonym"
                },
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                    "name": "zinc finger E-box-binding homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain enhancer-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zeb1",
                    "type": "recommended"
                },
                {
                    "name": "Tcf8",
                    "type": "synonym"
                },
                {
                    "name": "Zeb1",
                    "type": "synonym"
                },
                {
                    "name": "Zfhx1a",
                    "type": "synonym"
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                {
                    "name": "deltaEF1",
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            ],
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                    "id": "0110857",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110857"
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            ]
        },
        {
            "uniprot_canonical_ac": "P28166-1",
            "uniprot_ac": "P28166",
            "uniprot_id": "ZFH1_DROME",
            "refseq_ac": "NP_476850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 1",
                    "type": "recommended"
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                {
                    "name": "CG1322-PB",
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                },
                {
                    "name": "Zinc finger homeodomain protein 1",
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                {
                    "name": "Zinc-finger homeodomain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zn finger homeodomain 1, isoform B",
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                {
                    "name": "Zn homeodomain 1",
                    "type": "synonym"
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                {
                    "name": "zfh1-PB",
                    "type": "synonym"
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                {
                    "name": "zinc finger homeodomain 1",
                    "type": "synonym"
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                {
                    "name": "zinc finger homeodomain protein-1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain-1",
                    "type": "synonym"
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                {
                    "name": "zinc-finger homeobox gene",
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                {
                    "name": "zinc-finger homeodomain1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "zfh1",
                    "type": "recommended"
                },
                {
                    "name": "CG1322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1322",
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                },
                {
                    "name": "ZFH-1",
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                    "name": "ZFH1",
                    "type": "synonym"
                },
                {
                    "name": "ZFh1",
                    "type": "synonym"
                },
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                    "name": "Zfh-1",
                    "type": "synonym"
                },
                {
                    "name": "Zfh1a",
                    "type": "synonym"
                },
                {
                    "name": "Zfh1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00865",
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                {
                    "name": "zfh-1",
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                },
                {
                    "name": "zfh1",
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                },
                {
                    "name": "zfl-1",
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                {
                    "name": "zhf1",
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                    "id": "0110857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110857"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110857"
}