{
    "disease_id": "DOID:0111707",
    "recommended_name": {
        "id": "DOID:0111707",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111707",
        "name": "Bothnian type palmoplantar keratoderma",
        "description": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111707",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111707",
            "name": "PPKB",
            "description": ""
        },
        {
            "id": "DOID:0111707",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111707",
            "name": "diffuse palmoplantar keratoderma, Bothnian type",
            "description": ""
        },
        {
            "id": "MONDO:0010849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010849",
            "name": "palmoplantar keratoderma, Bothnian type",
            "description": ""
        },
        {
            "id": "MONDO:0010849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010849",
            "name": "palmoplantar keratoderma, Bothnian type",
            "description": ""
        },
        {
            "id": "MONDO:0010849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010849",
            "name": "PPKB",
            "description": ""
        },
        {
            "id": "MIM:600231",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600231",
            "name": "Keratoderma, palmoplantar, Bothnian type",
            "description": "Keratoderma, palmoplantar, Bothnian type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111707"
    ],
    "unlinked_id_list": []
}
