{
    "disease_id": "DOID:0070550",
    "recommended_name": {
        "id": "DOID:0070550",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070550",
        "name": "KRT1-related nonepidermolytic palmoplantar keratoderma",
        "description": "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070550",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070550",
            "name": "KRT1-related NEPPK",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "diffuse nonepidermolytic palmoplantar keratoderma",
            "description": "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis."
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "KRT1-related diffuse nonepidermolytic keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "NEPPK",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "diffuse nonepidermolytic palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "diffuse palmoplantar keratoderma, Bothnian type",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "non-epidermolytic palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "nonepidermolytic palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "palmoplantar keratoderma, nonepidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "PPK diffusa circumscripta",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "PPKNE",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "Thost-Unna disease",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "Thost-Unna palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "Thost-Unna syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "Unna-Thost palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "Unna-Thost syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010962",
            "name": "diffuse NEPPK",
            "description": ""
        },
        {
            "id": "MIM:600962",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600962",
            "name": "Keratoderma, palmoplantar, non-epidermolytic",
            "description": "Keratoderma, palmoplantar, non-epidermolytic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070550"
    ],
    "unlinked_id_list": []
}