{
    "disease_id": "DOID:0110856",
    "recommended_name": {
        "id": "DOID:0110856",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110856",
        "name": "posterior polymorphous corneal dystrophy 2",
        "description": "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110856",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110856",
            "name": "PPCD2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "posterior polymorphous corneal dystrophy 2",
            "description": "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene."
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "COL8A2 posterior polymorphous corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "PPCD2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "Ppcd2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "corneal dystrophy, posterior polymorphous 2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "corneal dystrophy, posterior polymorphous, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "posterior polymorphous corneal dystrophy caused by mutation in COL8A2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "posterior polymorphous corneal dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "name": "corneal dystrophy, POSTERIOR polymorphous, 2",
            "description": ""
        },
        {
            "id": "MIM:609140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609140",
            "name": "Corneal dystrophy, posterior polymorphous, 2",
            "description": "Corneal dystrophy, posterior polymorphous, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110856"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110856",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110856",
            "categories": []
        },
        {
            "id": "MONDO:0012199",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012199",
            "categories": []
        },
        {
            "id": "MIM:609140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LUA9-1",
            "uniprot_ac": "Q1LUA9",
            "uniprot_id": "Q1LUA9_DANRE",
            "refseq_ac": "NP_001076370",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VIII) chain isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Collagen alpha-2(VIII) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VIII) chain precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col8a2",
                    "type": "recommended"
                },
                {
                    "name": "col8a2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197n10.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LUA9-1",
            "evidence": [
                {
                    "id": "0110856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25318-1",
            "uniprot_ac": "P25318",
            "uniprot_id": "CO8A2_MOUSE",
            "refseq_ac": "NP_955767",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VIII) chain",
                    "type": "recommended"
                },
                {
                    "name": "Endothelial collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VIII) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VIII) chain",
                    "type": "synonym"
                },
                {
                    "name": "endothelial collagen",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type VIII, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col8a2",
                    "type": "recommended"
                },
                {
                    "name": "Col8a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P25318-1",
            "evidence": [
                {
                    "id": "0110856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25067-1",
            "uniprot_ac": "P25067",
            "uniprot_id": "CO8A2_HUMAN",
            "refseq_ac": "NP_001281276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VIII) chain",
                    "type": "recommended"
                },
                {
                    "name": "Endothelial collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen VIII, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VIII) chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VIII) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VIII, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial collagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL8A2",
                    "type": "recommended"
                },
                {
                    "name": "COL8A2",
                    "type": "synonym"
                },
                {
                    "name": "FECD1",
                    "type": "synonym"
                },
                {
                    "name": "FECD",
                    "type": "synonym"
                },
                {
                    "name": "PPCD2",
                    "type": "synonym"
                },
                {
                    "name": "PPCD",
                    "type": "synonym"
                }
            ],
            "record_id": "P25067-1",
            "evidence": [
                {
                    "id": "609140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609140"
                },
                {
                    "id": "0110856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LM23-1",
            "uniprot_ac": "A0ABK0LM23",
            "uniprot_id": "A0ABK0LM23_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type VIII alpha 2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col8a2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LM23-1",
            "evidence": [
                {
                    "id": "0110856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110856"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110856"
}