{
    "disease_id": "DOID:0050449",
    "recommended_name": {
        "id": "DOID:0050449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050449",
        "name": "pachyonychia congenita",
        "description": "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin."
    },
    "synonyms": [
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Jackson-Lawler Type Pachyonychia Congenita",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Jadassohn-Lewandowsky Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Pachyonychia Congenita Type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita 1",
            "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene."
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "KRT16 pachyonychia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita caused by mutation in KRT16",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "Jadassohn-Lewandowsky syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "PC1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita, Jadassohn-Lewandowsky type",
            "description": ""
        },
        {
            "id": "MIM:167200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/167200",
            "name": "Pachyonychia congenita 1",
            "description": "Pachyonychia congenita 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "categories": []
        },
        {
            "id": "MONDO:0008173",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "categories": []
        },
        {
            "id": "MIM:167200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/167200",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M1NXG3",
            "uniprot_id": "A0A8M1NXG3_DANRE",
            "refseq_ac": "NP_001186881",
            "glycoprotein": "no",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Keratin 96",
                    "type": "synonym"
                },
                {
                    "name": "keratin 96",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "krt96",
                    "type": "recommended"
                },
                {
                    "name": "fb17f05",
                    "type": "synonym"
                },
                {
                    "name": "krt96",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1n18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb17f05",
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                }
            ],
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                    "id": "0050449",
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                }
            ]
        },
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                }
            ],
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                },
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                    "type": "synonym"
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            ],
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                    "name": "krt92",
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                },
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                },
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                    "name": "si:dkeyp-113d7.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109868",
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                },
                {
                    "name": "zgc:136388",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type II cytokeratin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "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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                {
                    "id": "0050449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050449"
                }
            ]
        },
        {
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            "uniprot_ac": "Q6NWF6",
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            "glycoprotein": "yes",
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                }
            ],
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                {
                    "name": "Keratin, type II cytoskeletal 8",
                    "type": "recommended"
                },
                {
                    "name": "CK-8",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-8",
                    "type": "synonym"
                },
                {
                    "name": "K8",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-8",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-8",
                    "type": "synonym"
                },
                {
                    "name": "etID33550.23",
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                },
                {
                    "name": "etID43142.23",
                    "type": "synonym"
                },
                {
                    "name": "etID43142.8",
                    "type": "synonym"
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                {
                    "name": "keratin, type 2, gene 8",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 8",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "krt8",
                    "type": "recommended"
                },
                {
                    "name": "DreK8",
                    "type": "synonym"
                },
                {
                    "name": "cb186",
                    "type": "synonym"
                },
                {
                    "name": "krt2-8",
                    "type": "synonym"
                },
                {
                    "name": "krt8",
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                },
                {
                    "name": "sb:cb186",
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                },
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                    "name": "wu:fa20h05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa95h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96c06",
                    "type": "synonym"
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            ],
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                }
            ]
        },
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            "uniprot_canonical_ac": "B0UYS0-1",
            "uniprot_ac": "B0UYS0",
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            "refseq_ac": "NP_998688",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Keratin, type I cytoskeletal 15",
                    "type": "synonym"
                },
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                },
                {
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                }
            ],
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                    "name": "krt15",
                    "type": "recommended"
                },
                {
                    "name": "krt15",
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                },
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                    "name": "wu:fa91c06",
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                },
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            "uniprot_ac": "Q9Z2K1",
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                }
            ],
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            ],
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                },
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                }
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                }
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