{
    "disease_id": "DOID:0080671",
    "recommended_name": {
        "id": "DOID:0080671",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080671",
        "name": "Meesmann corneal dystrophy 2",
        "description": "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032904",
            "name": "corneal dystrophy, Meesmann, 2",
            "description": ""
        },
        {
            "id": "MONDO:0032904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032904",
            "name": "MECD2",
            "description": ""
        },
        {
            "id": "MIM:618767",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618767",
            "name": "Corneal dystrophy, Meesmann 2",
            "description": "Corneal dystrophy, Meesmann 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080671"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080671",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080671",
            "categories": []
        },
        {
            "id": "MONDO:0032904",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032904",
            "categories": []
        },
        {
            "id": "MIM:618767",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618767",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QV31-1",
            "uniprot_ac": "F1QV31",
            "uniprot_id": "F1QV31_DANRE",
            "refseq_ac": "NP_571231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type II cytokeratin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt5",
                    "type": "recommended"
                },
                {
                    "name": "ckii",
                    "type": "synonym"
                },
                {
                    "name": "krt5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj02d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk78b12",
                    "type": "synonym"
                },
                {
                    "name": "zfCKII",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QV31-1",
            "evidence": [
                {
                    "id": "0080671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NWF6-1",
            "uniprot_ac": "Q6NWF6",
            "uniprot_id": "K2C8_DANRE",
            "refseq_ac": "NP_956374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 8",
                    "type": "recommended"
                },
                {
                    "name": "CK-8",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-8",
                    "type": "synonym"
                },
                {
                    "name": "K8",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-8",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-8",
                    "type": "synonym"
                },
                {
                    "name": "etID33550.23",
                    "type": "synonym"
                },
                {
                    "name": "etID43142.23",
                    "type": "synonym"
                },
                {
                    "name": "etID43142.8",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type 2, gene 8",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt8",
                    "type": "recommended"
                },
                {
                    "name": "DreK8",
                    "type": "synonym"
                },
                {
                    "name": "cb186",
                    "type": "synonym"
                },
                {
                    "name": "krt2-8",
                    "type": "synonym"
                },
                {
                    "name": "krt8",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb186",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa20h05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa95h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96c06",
                    "type": "synonym"
                },
                {
                    "name": "zf-K8",
                    "type": "synonym"
                },
                {
                    "name": "zfk8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWF6-1",
            "evidence": [
                {
                    "id": "0080671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12035-1",
            "uniprot_ac": "P12035",
            "uniprot_id": "K2C3_HUMAN",
            "refseq_ac": "NP_476429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 3",
                    "type": "recommended"
                },
                {
                    "name": "65 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-3",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-3",
                    "type": "synonym"
                },
                {
                    "name": "K3",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-3",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb3",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 3",
                    "type": "synonym"
                },
                {
                    "name": "keratin 3, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 3",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT3",
                    "type": "recommended"
                },
                {
                    "name": "CK3",
                    "type": "synonym"
                },
                {
                    "name": "K3",
                    "type": "synonym"
                },
                {
                    "name": "KRT3",
                    "type": "synonym"
                },
                {
                    "name": "MECD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12035-1",
            "evidence": [
                {
                    "id": "618767",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618767"
                },
                {
                    "id": "0080671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080671"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080671"
}
