{
    "disease_id": "DOID:0081358",
    "recommended_name": {
        "id": "DOID:0081358",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081358",
        "name": "epidermolytic hyperkeratosis 1",
        "description": "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0700249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700249",
            "name": "epidermolytic hyperkeratosis 1",
            "description": ""
        },
        {
            "id": "MIM:113800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113800",
            "name": "Epidermolytic hyperkeratosis 1",
            "description": "Epidermolytic hyperkeratosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081358"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081358",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081358",
            "categories": []
        },
        {
            "id": "MONDO:0700249",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700249",
            "categories": []
        },
        {
            "id": "MIM:113800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/113800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0081358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081358"
                }
            ]
        },
        {
            "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": "0081358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04104-1",
            "uniprot_ac": "P04104",
            "uniprot_id": "K2C1_MOUSE",
            "refseq_ac": "NP_032499",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 1",
                    "type": "recommended"
                },
                {
                    "name": "67 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-1",
                    "type": "synonym"
                },
                {
                    "name": "K1",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb1",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-1",
                    "type": "synonym"
                },
                {
                    "name": "keratin 86",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 1",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt1",
                    "type": "recommended"
                },
                {
                    "name": "Krt-2.1",
                    "type": "synonym"
                },
                {
                    "name": "Krt1",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-1",
                    "type": "synonym"
                },
                {
                    "name": "Krt86",
                    "type": "synonym"
                }
            ],
            "record_id": "P04104-1",
            "evidence": [
                {
                    "id": "0081358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04264-1",
            "uniprot_ac": "P04264",
            "uniprot_id": "K2C1_HUMAN",
            "refseq_ac": "NP_006112",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "67 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-1",
                    "type": "synonym"
                },
                {
                    "name": "Hair alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "K1",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb1",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 1",
                    "type": "synonym"
                },
                {
                    "name": "epidermolytic hyperkeratosis 1",
                    "type": "synonym"
                },
                {
                    "name": "hair alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "keratin 1, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT1",
                    "type": "recommended"
                },
                {
                    "name": "AEI2",
                    "type": "synonym"
                },
                {
                    "name": "CK1",
                    "type": "synonym"
                },
                {
                    "name": "EHK1",
                    "type": "synonym"
                },
                {
                    "name": "EHK",
                    "type": "synonym"
                },
                {
                    "name": "EPPK",
                    "type": "synonym"
                },
                {
                    "name": "K1",
                    "type": "synonym"
                },
                {
                    "name": "KRT1A",
                    "type": "synonym"
                },
                {
                    "name": "KRT1",
                    "type": "synonym"
                },
                {
                    "name": "KRTA",
                    "type": "synonym"
                },
                {
                    "name": "NEPPK",
                    "type": "synonym"
                }
            ],
            "record_id": "P04264-1",
            "evidence": [
                {
                    "id": "113800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/113800"
                },
                {
                    "id": "0081358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IMF3-1",
            "uniprot_ac": "Q6IMF3",
            "uniprot_id": "K2C1_RAT",
            "refseq_ac": "NP_001008802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 1",
                    "type": "recommended"
                },
                {
                    "name": "CK-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-1",
                    "type": "synonym"
                },
                {
                    "name": "K1",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb1",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-1",
                    "type": "synonym"
                },
                {
                    "name": "keratin 1, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt1",
                    "type": "recommended"
                },
                {
                    "name": "Kb1",
                    "type": "synonym"
                },
                {
                    "name": "Krt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IMF3-1",
            "evidence": [
                {
                    "id": "0081358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081358"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081358"
}