{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111506",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111506",
            "categories": []
        },
        {
            "id": "MONDO:0007856",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007856",
            "categories": []
        },
        {
            "id": "MIM:148500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/148500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80WQ6-1",
            "uniprot_ac": "Q80WQ6",
            "uniprot_id": "RHDF2_MOUSE",
            "refseq_ac": "NP_001161152",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive rhomboid protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rhomboid family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid veinlet-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid-related protein",
                    "type": "synonym"
                },
                {
                    "name": "iRhom2",
                    "type": "synonym"
                },
                {
                    "name": "inactive rhomboid protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inactive rhomboid protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid family member 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid veinlet-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid, veinlet-like 6",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid-related protein",
                    "type": "synonym"
                },
                {
                    "name": "uncovered",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhbdf2",
                    "type": "recommended"
                },
                {
                    "name": "4732465I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Irhom2",
                    "type": "synonym"
                },
                {
                    "name": "Rhbdf2",
                    "type": "synonym"
                },
                {
                    "name": "Rhbdl6",
                    "type": "synonym"
                },
                {
                    "name": "Rhor",
                    "type": "synonym"
                },
                {
                    "name": "Uncv",
                    "type": "synonym"
                },
                {
                    "name": "cub",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80WQ6-1",
            "evidence": [
                {
                    "id": "0111506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111506"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PJF5-1",
            "uniprot_ac": "Q6PJF5",
            "uniprot_id": "RHDF2_HUMAN",
            "refseq_ac": "NP_001005498",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive rhomboid protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rhomboid 5 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid veinlet-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid veinlet-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "iRhom2",
                    "type": "synonym"
                },
                {
                    "name": "inactive rhomboid protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive rhomboid protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid family member 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid veinlet-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid veinlet-like protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHBDF2",
                    "type": "recommended"
                },
                {
                    "name": "IRHOM2",
                    "type": "synonym"
                },
                {
                    "name": "RHBDF2",
                    "type": "synonym"
                },
                {
                    "name": "RHBDL5",
                    "type": "synonym"
                },
                {
                    "name": "RHBDL6",
                    "type": "synonym"
                },
                {
                    "name": "TOCG",
                    "type": "synonym"
                },
                {
                    "name": "TOC",
                    "type": "synonym"
                },
                {
                    "name": "iRhom2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PJF5-1",
            "evidence": [
                {
                    "id": "148500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/148500"
                },
                {
                    "id": "0111506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111506"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LWZ3-1",
            "uniprot_ac": "F1LWZ3",
            "uniprot_id": "F1LWZ3_RAT",
            "refseq_ac": "NP_001100537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive rhomboid protein",
                    "type": "recommended"
                },
                {
                    "name": "Rhomboid family member",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid veinlet-like protein",
                    "type": "synonym"
                },
                {
                    "name": "iRhom",
                    "type": "synonym"
                },
                {
                    "name": "inactive rhomboid protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid family member 2",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid, veinlet-like 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhbdf2",
                    "type": "recommended"
                },
                {
                    "name": "Rhbdf2",
                    "type": "synonym"
                },
                {
                    "name": "Rhbdl6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LWZ3-1",
            "evidence": [
                {
                    "id": "0111506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111506"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q76NQ1-1",
            "uniprot_ac": "Q76NQ1",
            "uniprot_id": "RHDF1_DROME",
            "refseq_ac": "NP_995679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive rhomboid protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG33304-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rhomboid family protein rhomboid-5",
                    "type": "synonym"
                },
                {
                    "name": "iRhom1",
                    "type": "synonym"
                },
                {
                    "name": "rho-5-PA",
                    "type": "synonym"
                },
                {
                    "name": "rhomboid-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rho-5",
                    "type": "recommended"
                },
                {
                    "name": "CG33304",
                    "type": "synonym"
                },
                {
                    "name": "CG5364",
                    "type": "synonym"
                },
                {
                    "name": "CT17046",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33304",
                    "type": "synonym"
                },
                {
                    "name": "Rho-related[31D10]",
                    "type": "synonym"
                },
                {
                    "name": "iRhom1",
                    "type": "synonym"
                },
                {
                    "name": "iRhom",
                    "type": "synonym"
                },
                {
                    "name": "rho-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q76NQ1-1",
            "evidence": [
                {
                    "id": "0111506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111506"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111506"
}