{
    "disease_id": "DOID:0070552",
    "recommended_name": {
        "id": "DOID:0070552",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070552",
        "name": "epidermolytic palmoplantar keratoderma 1",
        "description": "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070552",
            "name": "EPPK1",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma, 1",
            "description": "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas."
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "EPPK",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, VC6rner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Voerner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of VC6rner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Voerner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Vrner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Vrner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localized epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis, localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "palmoplantar keratoderma, epidermolytic",
            "description": ""
        },
        {
            "id": "MIM:144200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/144200",
            "name": "Palmoplantar keratoderma, epidermolytic, 1",
            "description": "Palmoplantar keratoderma, epidermolytic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070552"
    ],
    "unlinked_id_list": []
}