{
    "disease_id": "DOID:0060457",
    "recommended_name": {
        "id": "DOID:0060457",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060457",
        "name": "posterior polymorphous corneal dystrophy",
        "description": "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer."
    },
    "synonyms": [
        {
            "id": "DOID:0060457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060457",
            "name": "PPCD",
            "description": ""
        },
        {
            "id": "DOID:0060457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060457",
            "name": "Schlichting dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060457",
            "name": "hereditary polymorphus posterior corneal dystrophy",
            "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": "DOID:0080669",
            "label": "posterior polymorphous corneal dystrophy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110855",
            "label": "posterior polymorphous corneal dystrophy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110856",
            "label": "posterior polymorphous corneal dystrophy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110857",
            "label": "posterior polymorphous corneal dystrophy 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110857",
        "DOID:0060457",
        "DOID:0080669",
        "DOID:0110855",
        "DOID:0110856"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060457",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060457",
            "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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BRP0-1",
            "uniprot_ac": "Q9BRP0",
            "uniprot_id": "OVOL2_HUMAN",
            "refseq_ac": "NP_001290390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Ovo-like 2",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 339",
                    "type": "synonym"
                },
                {
                    "name": "corneal endothelial dystrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "hOvo2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Ovo-like 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Ovo-like 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 339",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OVOL2",
                    "type": "recommended"
                },
                {
                    "name": "CHED1",
                    "type": "synonym"
                },
                {
                    "name": "CHED2",
                    "type": "synonym"
                },
                {
                    "name": "CHED",
                    "type": "synonym"
                },
                {
                    "name": "EUROIMAGE566589",
                    "type": "synonym"
                },
                {
                    "name": "OVOL2",
                    "type": "synonym"
                },
                {
                    "name": "PPCD1",
                    "type": "synonym"
                },
                {
                    "name": "ZNF339",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRP0-1",
            "evidence": [
                {
                    "id": "122000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/122000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060457"
}