{
    "disease_id": "DOID:0070552",
    "recommended_name": {
        "id": "DOID:0070552",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070552",
        "name": "epidermolytic palmoplantar keratoderma 1",
        "description": "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070552",
            "name": "EPPK1",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma, 1",
            "description": "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas."
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "EPPK",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, VC6rner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Voerner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of VC6rner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Voerner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "diffuse erythrodermic palmoplantar keratoderma, Vrner type",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "epidermolytic palmoplantar keratoderma of Vrner",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis palmoplantar localized epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "hyperkeratosis, localised epidermolytic",
            "description": ""
        },
        {
            "id": "MONDO:0007758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "name": "palmoplantar keratoderma, epidermolytic",
            "description": ""
        },
        {
            "id": "MIM:144200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/144200",
            "name": "Palmoplantar keratoderma, epidermolytic, 1",
            "description": "Palmoplantar keratoderma, epidermolytic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070552"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070552",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070552",
            "categories": []
        },
        {
            "id": "MONDO:0007758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007758",
            "categories": []
        },
        {
            "id": "MIM:144200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/144200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TEZ1-1",
            "uniprot_ac": "A0A8N7TEZ1",
            "uniprot_id": "A0A8N7TEZ1_DANRE",
            "refseq_ac": "NP_001373396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC553479",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC553479",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt18a.2",
                    "type": "recommended"
                },
                {
                    "name": "krt18a.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-133j6.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEZ1-1",
            "evidence": [
                {
                    "id": "0070552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RHW0-1",
            "uniprot_ac": "Q6RHW0",
            "uniprot_id": "K1C9_MOUSE",
            "refseq_ac": "NP_957707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-9",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 9",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt9",
                    "type": "recommended"
                },
                {
                    "name": "EPPK",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-9",
                    "type": "synonym"
                },
                {
                    "name": "Krt9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RHW0-1",
            "evidence": [
                {
                    "id": "0070552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35527-1",
            "uniprot_ac": "P35527",
            "uniprot_id": "K1C9_HUMAN",
            "refseq_ac": "NP_000217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-9",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 9",
                    "type": "synonym"
                },
                {
                    "name": "keratin 9, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 9",
                    "type": "synonym"
                },
                {
                    "name": "type I cytoskeletal 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "EPPK",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "KRT9",
                    "type": "synonym"
                }
            ],
            "record_id": "P35527-1",
            "evidence": [
                {
                    "id": "144200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/144200"
                },
                {
                    "id": "0070552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070552"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIS9-1",
            "uniprot_ac": "Q8CIS9",
            "uniprot_id": "K1C9_RAT",
            "refseq_ac": "NP_703206",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 9",
                    "type": "recommended"
                },
                {
                    "name": "CK-9",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "K9",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-9",
                    "type": "synonym"
                },
                {
                    "name": "Spermatid perinuclear ring manchette protein K9",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-9",
                    "type": "synonym"
                },
                {
                    "name": "keratin 9 (epidermolytic palmoplantar keratoderma)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 9, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 9",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 9",
                    "type": "synonym"
                },
                {
                    "name": "spermatid perinuclear ring manchette protein K9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt9",
                    "type": "recommended"
                },
                {
                    "name": "Krt1-9",
                    "type": "synonym"
                },
                {
                    "name": "Krt9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIS9-1",
            "evidence": [
                {
                    "id": "0070552",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070552"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070552"
}