{
    "disease_id": "DOID:0111506",
    "recommended_name": {
        "id": "DOID:0111506",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111506",
        "name": "palmoplantar keratoderma-esophageal carcinoma syndrome",
        "description": "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "Bennion-Patterson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "Howell-Evans syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "keratosis palmoplantaris-esophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "TOC",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "palmoplantar hyperkeratosis-esophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "palmoplantar keratoderma with esophageal cancer",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "tylosis with esophageal cancer",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "tylosis-oesophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "name": "keratosis palmaris et plantaris with esophageal cancer",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "palmoplantar keratoderma-esophageal carcinoma syndrome",
            "description": "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern."
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "Bennion-Patterson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "Howell-Evans syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "keratosis palmoplantaris-esophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "palmoplantar hyperkeratosis-esophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "palmoplantar keratoderma-esophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "tylosis-oesophageal carcinoma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "Toc",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "howel-Evans syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "keratosis palmaris et plantaris with esophageal cancer",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "keratosis palmoplantaris with esophageal cancer",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "tylosis - oesophageal carcinoma",
            "description": ""
        },
        {
            "id": "MONDO:0007856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "name": "tylosis with esophageal cancer",
            "description": ""
        },
        {
            "id": "MIM:148500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148500",
            "name": "Tylosis with esophageal cancer",
            "description": "Tylosis with esophageal cancer"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111506"
    ],
    "unlinked_id_list": []
}