{
    "disease_id": "DOID:0111709",
    "recommended_name": {
        "id": "DOID:0111709",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111709",
        "name": "focal nonepidermolytic palmoplantar keratoderma 1",
        "description": "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111709",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111709",
            "name": "FNEPPK1",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal 1",
            "description": "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene."
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "KRT16 nonepidermolytic palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal 1",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "palmoplantar keratoderma, nonepidermolytic, focal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "name": "FNEPPK1",
            "description": ""
        },
        {
            "id": "MIM:613000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613000",
            "name": "Keratoderma, palmoplantar, non-epidermolytic, focal 1",
            "description": "Keratoderma, palmoplantar, non-epidermolytic, focal 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111709"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111709",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111709",
            "categories": []
        },
        {
            "id": "MONDO:0013073",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013073",
            "categories": []
        },
        {
            "id": "MIM:613000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N5Q5-1",
            "uniprot_ac": "A0A8M1N5Q5",
            "uniprot_id": "A0A8M1N5Q5_DANRE",
            "refseq_ac": "NP_001017824",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 92",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-like",
                    "type": "synonym"
                },
                {
                    "name": "keratin 92",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt92",
                    "type": "recommended"
                },
                {
                    "name": "krt92",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-113d7.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109868",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136388",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N5Q5-1",
            "evidence": [
                {
                    "id": "0111709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NXG3-1",
            "uniprot_ac": "A0A8M1NXG3",
            "uniprot_id": "A0A8M1NXG3_DANRE",
            "refseq_ac": "NP_001186881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 96",
                    "type": "synonym"
                },
                {
                    "name": "keratin 96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt96",
                    "type": "recommended"
                },
                {
                    "name": "fb17f05",
                    "type": "synonym"
                },
                {
                    "name": "krt96",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1n18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb17f05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NXG3-1",
            "evidence": [
                {
                    "id": "0111709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2K1-1",
            "uniprot_ac": "Q9Z2K1",
            "uniprot_id": "K1C16_MOUSE",
            "refseq_ac": "NP_001300887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 16",
                    "type": "recommended"
                },
                {
                    "name": "CK-16",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-16",
                    "type": "synonym"
                },
                {
                    "name": "K16",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-16",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-16",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 16",
                    "type": "synonym"
                },
                {
                    "name": "keratin intermediate filament 16a",
                    "type": "synonym"
                },
                {
                    "name": "keratin intermediate filament 16b",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 16 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt16",
                    "type": "recommended"
                },
                {
                    "name": "CK-16",
                    "type": "synonym"
                },
                {
                    "name": "K16",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-16",
                    "type": "synonym"
                },
                {
                    "name": "Krt16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2K1-1",
            "evidence": [
                {
                    "id": "0111709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08779-1",
            "uniprot_ac": "P08779",
            "uniprot_id": "K1C16_HUMAN",
            "refseq_ac": "NP_005548",
            "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 16",
                    "type": "recommended"
                },
                {
                    "name": "CK-16",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-16",
                    "type": "synonym"
                },
                {
                    "name": "K16",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-16",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 16",
                    "type": "synonym"
                },
                {
                    "name": "focal non-epidermolytic palmoplantar keratoderma",
                    "type": "synonym"
                },
                {
                    "name": "keratin 16, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT16",
                    "type": "recommended"
                },
                {
                    "name": "CK16",
                    "type": "synonym"
                },
                {
                    "name": "FNEPPK",
                    "type": "synonym"
                },
                {
                    "name": "K16",
                    "type": "synonym"
                },
                {
                    "name": "K1CP",
                    "type": "synonym"
                },
                {
                    "name": "KRT16A",
                    "type": "synonym"
                },
                {
                    "name": "KRT16",
                    "type": "synonym"
                },
                {
                    "name": "NEPPK",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08779-1",
            "evidence": [
                {
                    "id": "613000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613000"
                },
                {
                    "id": "0111709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111709"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111709"
}