{
    "disease_id": "DOID:0061223",
    "recommended_name": {
        "id": "DOID:0061223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061223",
        "name": "epidermolytic hyperkeratosis 2A",
        "description": "An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0061223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061223",
            "name": "autosomal dominant epidermolytic hyperkeratosis 2A",
            "description": ""
        },
        {
            "id": "MONDO:0700248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700248",
            "name": "epidermolytic hyperkeratosis 2A, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:620150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620150",
            "name": "Epidermolytic hyperkeratosis 2A",
            "description": "Epidermolytic hyperkeratosis 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061223"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061223",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061223",
            "categories": []
        },
        {
            "id": "MONDO:0700248",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700248",
            "categories": []
        },
        {
            "id": "MIM:620150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620150",
            "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": "0061223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02535-1",
            "uniprot_ac": "P02535",
            "uniprot_id": "K1C10_MOUSE",
            "refseq_ac": "NP_034790",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "56 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-10",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-10",
                    "type": "synonym"
                },
                {
                    "name": "K10",
                    "type": "synonym"
                },
                {
                    "name": "Keratin, type I cytoskeletal 59 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-10",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-10",
                    "type": "synonym"
                },
                {
                    "name": "epidermal keratin 10",
                    "type": "synonym"
                },
                {
                    "name": "intermediate filament protein",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 10",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 10",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 59 kDa",
                    "type": "synonym"
                },
                {
                    "name": "suprabasal cytokeratin 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt10",
                    "type": "recommended"
                },
                {
                    "name": "D130054E02Rik",
                    "type": "synonym"
                },
                {
                    "name": "K10",
                    "type": "synonym"
                },
                {
                    "name": "K1C1",
                    "type": "synonym"
                },
                {
                    "name": "Krt-1.10",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-10",
                    "type": "synonym"
                },
                {
                    "name": "Krt10",
                    "type": "synonym"
                }
            ],
            "record_id": "P02535-1",
            "evidence": [
                {
                    "id": "0061223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13645-1",
            "uniprot_ac": "P13645",
            "uniprot_id": "K1C10_HUMAN",
            "refseq_ac": "",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "CK-10",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-10",
                    "type": "synonym"
                },
                {
                    "name": "K10",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT10",
                    "type": "recommended"
                },
                {
                    "name": "KPP",
                    "type": "synonym"
                }
            ],
            "record_id": "P13645-1",
            "evidence": [
                {
                    "id": "620150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620150"
                },
                {
                    "id": "0061223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IFW6-1",
            "uniprot_ac": "Q6IFW6",
            "uniprot_id": "K1C10_RAT",
            "refseq_ac": "XP_063125642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 10",
                    "type": "recommended"
                },
                {
                    "name": "CK-10",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-10",
                    "type": "synonym"
                },
                {
                    "name": "K10",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-10",
                    "type": "synonym"
                },
                {
                    "name": "Type I keratin Ka10",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 10 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt10",
                    "type": "recommended"
                },
                {
                    "name": "Ka10",
                    "type": "synonym"
                },
                {
                    "name": "Krt10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IFW6-1",
            "evidence": [
                {
                    "id": "0061223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061223"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061223"
}