{
    "disease_id": "DOID:0070551",
    "recommended_name": {
        "id": "DOID:0070551",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070551",
        "name": "epidermolytic palmoplantar keratoderma 2",
        "description": "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070551",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070551",
            "name": "EPPK2",
            "description": ""
        },
        {
            "id": "MONDO:0957303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957303",
            "name": "palmoplantar keratoderma, epidermolytic, 2",
            "description": ""
        },
        {
            "id": "MIM:620411",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620411",
            "name": "Palmoplantar keratoderma, epidermolytic, 2",
            "description": "Palmoplantar keratoderma, epidermolytic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070551"
    ],
    "unlinked_id_list": []
}