{
    "disease_id": "DOID:0111710",
    "recommended_name": {
        "id": "DOID:0111710",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111710",
        "name": "focal or diffuse nonepidermolytic palmoplantar keratoderma",
        "description": "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111710",
            "name": "PPKNEFD",
            "description": ""
        },
        {
            "id": "DOID:0111710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111710",
            "name": "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering",
            "description": ""
        },
        {
            "id": "MONDO:0014327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014327",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal or diffuse",
            "description": ""
        },
        {
            "id": "MONDO:0014327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014327",
            "name": "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering",
            "description": ""
        },
        {
            "id": "MONDO:0014327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014327",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal or diffuse",
            "description": ""
        },
        {
            "id": "MONDO:0014327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014327",
            "name": "PPKNEFD",
            "description": ""
        },
        {
            "id": "MIM:615735",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615735",
            "name": "Palmoplantar keratoderma, non-epidermolytic, focal or diffuse",
            "description": "Palmoplantar keratoderma, non-epidermolytic, focal or diffuse"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111710"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111710",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111710",
            "categories": []
        },
        {
            "id": "MONDO:0014327",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014327",
            "categories": []
        },
        {
            "id": "MIM:615735",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615735",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QV31-1",
            "uniprot_ac": "F1QV31",
            "uniprot_id": "F1QV31_DANRE",
            "refseq_ac": "NP_571231",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "synonym"
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                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type II cytokeratin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "krt5",
                    "type": "recommended"
                },
                {
                    "name": "ckii",
                    "type": "synonym"
                },
                {
                    "name": "krt5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj02d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk78b12",
                    "type": "synonym"
                },
                {
                    "name": "zfCKII",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111710"
                }
            ]
        },
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                }
            ],
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                {
                    "name": "Keratin, type II cytoskeletal 8",
                    "type": "recommended"
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                    "name": "CK-8",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-8",
                    "type": "synonym"
                },
                {
                    "name": "K8",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-8",
                    "type": "synonym"
                },
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                    "name": "cytokeratin-8",
                    "type": "synonym"
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                    "name": "etID33550.23",
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                    "name": "etID43142.23",
                    "type": "synonym"
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                    "name": "etID43142.8",
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                    "name": "keratin, type 2, gene 8",
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                    "type": "synonym"
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            ],
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                    "name": "krt8",
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                {
                    "name": "DreK8",
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                    "name": "cb186",
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                {
                    "name": "krt8",
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                },
                {
                    "name": "sb:cb186",
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                },
                {
                    "name": "wu:fa20h05",
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                },
                {
                    "name": "wu:fa95h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96c06",
                    "type": "synonym"
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                {
                    "name": "zf-K8",
                    "type": "synonym"
                },
                {
                    "name": "zfk8",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50446-1",
            "uniprot_ac": "P50446",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                },
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                    "name": "60-kDa keratin",
                    "type": "synonym"
                },
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                    "name": "CK-6A",
                    "type": "synonym"
                },
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                },
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                    "name": "K6-alpha",
                    "type": "synonym"
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                    "name": "K6A",
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                },
                {
                    "name": "Keratin-6-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-6A",
                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "keratin complex 2, basic, gene 6a",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 6c",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 6A",
                    "type": "synonym"
                },
                {
                    "name": "keratin-6-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mK6-alpha",
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                }
            ],
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                {
                    "name": "Krt6a",
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                },
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "K6[a]",
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                },
                {
                    "name": "Ker2",
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                    "name": "Krt2-6a",
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                    "name": "Krt6a",
                    "type": "synonym"
                },
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                    "name": "Krt6",
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                {
                    "name": "MK6a",
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                },
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            "uniprot_ac": "A0A2R8VHP3",
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                }
            ],
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                {
                    "name": "Predicted pseudogene 5478",
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                }
            ],
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                {
                    "name": "Gm5478",
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                    "id": "0111710",
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            "uniprot_canonical_ac": "Q9Z331-1",
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            ],
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                {
                    "name": "Keratin, type II cytoskeletal 6B",
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                    "name": "Homo sapiens",
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                    "name": "Olfactory receptor",
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                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC102553726",
                    "type": "recommended"
                },
                {
                    "name": "LOC102553726",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AP90-1",
            "evidence": [
                {
                    "id": "0111710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111710"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111710"
}