{
    "disease_id": "DOID:0111346",
    "recommended_name": {
        "id": "DOID:0111346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111346",
        "name": "epidermolysis bullosa simplex 2F with mottled pigmentation",
        "description": "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111346",
            "name": "EBSMP",
            "description": ""
        },
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111346",
            "name": "Epidermolysis bullosa simplex-MP",
            "description": ""
        },
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111346",
            "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering",
            "description": ""
        },
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111346",
            "name": "epidermolysis bullosa simplex with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation."
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBS-MP",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBS with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBSMP",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering",
            "description": ""
        },
        {
            "id": "MIM:131960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131960",
            "name": "Epidermolysis bullosa simplex 2F, with mottled pigmentation",
            "description": "Epidermolysis bullosa simplex 2F, with mottled pigmentation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111346",
            "categories": []
        },
        {
            "id": "MONDO:0007556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "categories": []
        },
        {
            "id": "MIM:131960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131960",
            "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": "0111346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111346"
                }
            ]
        },
        {
            "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": "0111346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111346"
                }
            ]
        },
        {
            "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": "131960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131960"
                },
                {
                    "id": "0111346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111346"
                }
            ]
        },
        {
            "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": "0111346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111346"
}