{
    "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": []
}