{
    "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": []
}