{
    "disease_id": "DOID:0060735",
    "recommended_name": {
        "id": "DOID:0060735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060735",
        "name": "generalized severe epidermolysis bullosa simplex 1A",
        "description": "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."
    },
    "synonyms": [
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "EBS-gen sev",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "EBSDM",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa herpetiformis Dowling-Meara type",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa simplex, herpetiformis",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "generalized severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa simplex Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex 1A, generalized severe",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration."
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS, generalised severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS, generalized severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBSDM",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex 1A, generalized severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "generalised severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "Dowling-Meara type epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS-DM",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, generalised severe",
            "description": ""
        },
        {
            "id": "MIM:131760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131760",
            "name": "Epidermolysis bullosa simplex 1A, generalized severe",
            "description": "Epidermolysis bullosa simplex 1A, generalized severe"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060735"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060735",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "categories": []
        },
        {
            "id": "MONDO:0007550",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "categories": []
        },
        {
            "id": "MIM:131760",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131760",
            "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": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N5Q5-1",
            "uniprot_ac": "A0A8M1N5Q5",
            "uniprot_id": "A0A8M1N5Q5_DANRE",
            "refseq_ac": "NP_001017824",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 92",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-like",
                    "type": "synonym"
                },
                {
                    "name": "keratin 92",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt92",
                    "type": "recommended"
                },
                {
                    "name": "krt92",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-113d7.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109868",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136388",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N5Q5-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0UYS0-1",
            "uniprot_ac": "B0UYS0",
            "uniprot_id": "B0UYS0_DANRE",
            "refseq_ac": "NP_998688",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 15",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt15",
                    "type": "recommended"
                },
                {
                    "name": "krt15",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa91c06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa95d04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55334",
                    "type": "synonym"
                }
            ],
            "record_id": "B0UYS0-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NXG3-1",
            "uniprot_ac": "A0A8M1NXG3",
            "uniprot_id": "A0A8M1NXG3_DANRE",
            "refseq_ac": "NP_001186881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 96",
                    "type": "synonym"
                },
                {
                    "name": "keratin 96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt96",
                    "type": "recommended"
                },
                {
                    "name": "fb17f05",
                    "type": "synonym"
                },
                {
                    "name": "krt96",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1n18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb17f05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NXG3-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61781-1",
            "uniprot_ac": "Q61781",
            "uniprot_id": "K1C14_MOUSE",
            "refseq_ac": "NP_001300886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Krt-1.14",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-14",
                    "type": "synonym"
                },
                {
                    "name": "Krt14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61781-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922U2-1",
            "uniprot_ac": "Q922U2",
            "uniprot_id": "K2C5_MOUSE",
            "refseq_ac": "NP_081287",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb5",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "tuftelin interacting protein 8",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt5",
                    "type": "recommended"
                },
                {
                    "name": "3300001P10Rik",
                    "type": "synonym"
                },
                {
                    "name": "CK5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-5",
                    "type": "synonym"
                },
                {
                    "name": "Krt5",
                    "type": "synonym"
                },
                {
                    "name": "Tfip8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922U2-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02533-1",
            "uniprot_ac": "P02533",
            "uniprot_id": "K1C14_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT14",
                    "type": "recommended"
                }
            ],
            "record_id": "P02533-1",
            "evidence": [
                {
                    "id": "131760",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131760"
                },
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6Q2-1",
            "uniprot_ac": "Q6P6Q2",
            "uniprot_id": "K2C5_RAT",
            "refseq_ac": "NP_899162",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb5",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin 8",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt5",
                    "type": "recommended"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-5",
                    "type": "synonym"
                },
                {
                    "name": "Krt5",
                    "type": "synonym"
                },
                {
                    "name": "Sak57",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P6Q2-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IFV1-1",
            "uniprot_ac": "Q6IFV1",
            "uniprot_id": "K1C14_RAT",
            "refseq_ac": "NP_001008751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                },
                {
                    "name": "Type I keratin Ka14",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 14, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14",
                    "type": "synonym"
                },
                {
                    "name": "type I keratin Ka14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt14",
                    "type": "recommended"
                },
                {
                    "name": "Ka14",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-14",
                    "type": "synonym"
                },
                {
                    "name": "Krt14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IFV1-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13647-1",
            "uniprot_ac": "P13647",
            "uniprot_id": "K2C5_HUMAN",
            "refseq_ac": "NP_000415",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "58 kda cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb5",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT5",
                    "type": "recommended"
                },
                {
                    "name": "CK5",
                    "type": "synonym"
                },
                {
                    "name": "DDD1",
                    "type": "synonym"
                },
                {
                    "name": "DDD",
                    "type": "synonym"
                },
                {
                    "name": "EBS1",
                    "type": "synonym"
                },
                {
                    "name": "EBS2A",
                    "type": "synonym"
                },
                {
                    "name": "EBS2B",
                    "type": "synonym"
                },
                {
                    "name": "EBS2C",
                    "type": "synonym"
                },
                {
                    "name": "EBS2D",
                    "type": "synonym"
                },
                {
                    "name": "EBS2E",
                    "type": "synonym"
                },
                {
                    "name": "EBS2F",
                    "type": "synonym"
                },
                {
                    "name": "EBS2",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "KRT5A",
                    "type": "synonym"
                },
                {
                    "name": "KRT5",
                    "type": "synonym"
                }
            ],
            "record_id": "P13647-1",
            "evidence": [
                {
                    "id": "0060735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060735"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060735"
}