{
    "disease_id": "DOID:0111660",
    "recommended_name": {
        "id": "DOID:0111660",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111660",
        "name": "ectodermal dysplasia 7",
        "description": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111660",
            "name": "ECTD7",
            "description": ""
        },
        {
            "id": "DOID:0111660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111660",
            "name": "ectodermal dysplasia 7, hair/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0013975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "name": "ectodermal dysplasia 7, hair/nail type",
            "description": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene."
        },
        {
            "id": "MONDO:0013975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "name": "KRT74 pure hair and nail ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "name": "ectodermal dysplasia 7, hair/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0013975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "name": "pure hair and nail ectodermal dysplasia caused by mutation in KRT74",
            "description": ""
        },
        {
            "id": "MONDO:0013975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "name": "ECTD7",
            "description": ""
        },
        {
            "id": "MIM:614929",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614929",
            "name": "Ectodermal dysplasia 7, hair/nail type",
            "description": "Ectodermal dysplasia 7, hair/nail type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111660"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111660",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111660",
            "categories": []
        },
        {
            "id": "MONDO:0013975",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013975",
            "categories": []
        },
        {
            "id": "MIM:614929",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614929",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NWF6-1",
            "uniprot_ac": "Q6NWF6",
            "uniprot_id": "K2C8_DANRE",
            "refseq_ac": "NP_956374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "etID43142.23",
                    "type": "synonym"
                },
                {
                    "name": "etID43142.8",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type 2, gene 8",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt8",
                    "type": "recommended"
                },
                {
                    "name": "DreK8",
                    "type": "synonym"
                },
                {
                    "name": "cb186",
                    "type": "synonym"
                },
                {
                    "name": "krt2-8",
                    "type": "synonym"
                },
                {
                    "name": "krt8",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb186",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa20h05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa95h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96c06",
                    "type": "synonym"
                },
                {
                    "name": "zf-K8",
                    "type": "synonym"
                },
                {
                    "name": "zfk8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWF6-1",
            "evidence": [
                {
                    "id": "0111660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QV31-1",
            "uniprot_ac": "F1QV31",
            "uniprot_id": "F1QV31_DANRE",
            "refseq_ac": "NP_571231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "F1QV31-1",
            "evidence": [
                {
                    "id": "0111660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IFZ9-1",
            "uniprot_ac": "Q6IFZ9",
            "uniprot_id": "K2C74_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 74",
                    "type": "recommended"
                },
                {
                    "name": "K74",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-74",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt74",
                    "type": "recommended"
                },
                {
                    "name": "Kb37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IFZ9-1",
            "evidence": [
                {
                    "id": "0111660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7RTS7-1",
            "uniprot_ac": "Q7RTS7",
            "uniprot_id": "K2C74_HUMAN",
            "refseq_ac": "NP_778223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 74",
                    "type": "recommended"
                },
                {
                    "name": "CK-74",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-74",
                    "type": "synonym"
                },
                {
                    "name": "K5C",
                    "type": "synonym"
                },
                {
                    "name": "K74",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5c",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-74",
                    "type": "synonym"
                },
                {
                    "name": "Type II inner root sheath-specific keratin-K6irs4",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb37",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-74",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5c",
                    "type": "synonym"
                },
                {
                    "name": "keratin 6 irs4",
                    "type": "synonym"
                },
                {
                    "name": "keratin 74, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 74",
                    "type": "synonym"
                },
                {
                    "name": "type II inner root sheath-specific keratin-K6irs4",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT74",
                    "type": "recommended"
                },
                {
                    "name": "ADWH",
                    "type": "synonym"
                },
                {
                    "name": "ECTD7",
                    "type": "synonym"
                },
                {
                    "name": "HTSS2",
                    "type": "synonym"
                },
                {
                    "name": "HYPT3",
                    "type": "synonym"
                },
                {
                    "name": "K6IRS4",
                    "type": "synonym"
                },
                {
                    "name": "KB37",
                    "type": "synonym"
                },
                {
                    "name": "KRT5C",
                    "type": "synonym"
                },
                {
                    "name": "KRT6IRS4",
                    "type": "synonym"
                },
                {
                    "name": "KRT74",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7RTS7-1",
            "evidence": [
                {
                    "id": "614929",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614929"
                },
                {
                    "id": "0111660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111660"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111660"
}