{
    "disease_id": "DOID:0080510",
    "recommended_name": {
        "id": "DOID:0080510",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080510",
        "name": "epidermolysis bullosa simplex 1C",
        "description": "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080510",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080510",
            "name": "epidermolysis bullosa simplex localized type",
            "description": ""
        },
        {
            "id": "DOID:0080510",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080510",
            "name": "epidermolysis bullosa simplex Weber-Cockayne type",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "epidermolysis bullosa simplex 1C, localized",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather."
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "EBS-loc",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "epidermolysis bullosa simplex 1C, localized",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "epidermolysis bullosa simplex of palms and soles",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "epidermolysis bullosa simplex, Weber-Cockayne type",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "localised epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "localized epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "Weber-Cockayne syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "Weber-Cockayne type epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "name": "epidermolysis bullosa simplex, localised",
            "description": ""
        },
        {
            "id": "MIM:131800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131800",
            "name": "Epidermolysis bullosa simplex 1C, localized",
            "description": "Epidermolysis bullosa simplex 1C, localized"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080510"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080510",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080510",
            "categories": []
        },
        {
            "id": "MONDO:0007551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007551",
            "categories": []
        },
        {
            "id": "MIM:131800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "131800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080510"
}