{
    "disease_id": "DOID:0110710",
    "recommended_name": {
        "id": "DOID:0110710",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110710",
        "name": "hypotrichosis 13",
        "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0110710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110710",
            "name": "hypotrichosis with woolly hair",
            "description": ""
        },
        {
            "id": "DOID:0110710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110710",
            "name": "HYPT13",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis 13",
            "description": "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene."
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "HYPT13",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "KRT71 hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis 13",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis caused by mutation in KRT71",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis with woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypotrichosis with wooly hair",
            "description": ""
        },
        {
            "id": "MONDO:0014390",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "name": "hypt13",
            "description": ""
        },
        {
            "id": "MIM:615896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615896",
            "name": "Hypotrichosis 13",
            "description": "Hypotrichosis 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110710"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110710",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110710",
            "categories": []
        },
        {
            "id": "MONDO:0014390",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014390",
            "categories": []
        },
        {
            "id": "MIM:615896",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615896",
            "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": "0110710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110710"
                }
            ]
        },
        {
            "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": "0110710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0H5-1",
            "uniprot_ac": "Q9R0H5",
            "uniprot_id": "K2C71_MOUSE",
            "refseq_ac": "NP_064340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 71",
                    "type": "recommended"
                },
                {
                    "name": "CK-6G",
                    "type": "synonym"
                },
                {
                    "name": "CK-71",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-6G",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-71",
                    "type": "synonym"
                },
                {
                    "name": "K6G",
                    "type": "synonym"
                },
                {
                    "name": "K71",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-6G",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-71",
                    "type": "synonym"
                },
                {
                    "name": "Type II inner root sheath-specific keratin-K6irs1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb34",
                    "type": "synonym"
                },
                {
                    "name": "caracul",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-6G",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-71",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 6g",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, gene 6g",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 71",
                    "type": "synonym"
                },
                {
                    "name": "keratin-6G",
                    "type": "synonym"
                },
                {
                    "name": "mK6irs1/Krt2-6g",
                    "type": "synonym"
                },
                {
                    "name": "mK6irs",
                    "type": "synonym"
                },
                {
                    "name": "type II inner root sheath-specific keratin-K6irs1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt71",
                    "type": "recommended"
                },
                {
                    "name": "CK-6G",
                    "type": "synonym"
                },
                {
                    "name": "CK-71",
                    "type": "synonym"
                },
                {
                    "name": "Cal4",
                    "type": "synonym"
                },
                {
                    "name": "Ca",
                    "type": "synonym"
                },
                {
                    "name": "Cu",
                    "type": "synonym"
                },
                {
                    "name": "K6G",
                    "type": "synonym"
                },
                {
                    "name": "K6irs1",
                    "type": "synonym"
                },
                {
                    "name": "K71",
                    "type": "synonym"
                },
                {
                    "name": "Kb34",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-6g",
                    "type": "synonym"
                },
                {
                    "name": "Krt6g",
                    "type": "synonym"
                },
                {
                    "name": "Krt71",
                    "type": "synonym"
                },
                {
                    "name": "mK6irs1",
                    "type": "synonym"
                },
                {
                    "name": "mK6irs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0H5-1",
            "evidence": [
                {
                    "id": "0110710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SY84-1",
            "uniprot_ac": "Q3SY84",
            "uniprot_id": "K2C71_HUMAN",
            "refseq_ac": "NP_258259",
            "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 71",
                    "type": "recommended"
                },
                {
                    "name": "CK-71",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-71",
                    "type": "synonym"
                },
                {
                    "name": "K71",
                    "type": "synonym"
                },
                {
                    "name": "Keratin 6 irs",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-71",
                    "type": "synonym"
                },
                {
                    "name": "Type II inner root sheath-specific keratin-K6irs1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb34",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-71",
                    "type": "synonym"
                },
                {
                    "name": "hK6irs1",
                    "type": "synonym"
                },
                {
                    "name": "hK6irs",
                    "type": "synonym"
                },
                {
                    "name": "keratin 6 irs",
                    "type": "synonym"
                },
                {
                    "name": "keratin 71, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 71",
                    "type": "synonym"
                },
                {
                    "name": "type II inner root sheath-specific keratin-K6irs1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT71",
                    "type": "recommended"
                },
                {
                    "name": "HYPT13",
                    "type": "synonym"
                },
                {
                    "name": "K6IRS1",
                    "type": "synonym"
                },
                {
                    "name": "KB34",
                    "type": "synonym"
                },
                {
                    "name": "KRT6IRS1",
                    "type": "synonym"
                },
                {
                    "name": "KRT6IRS",
                    "type": "synonym"
                },
                {
                    "name": "KRT71",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SY84-1",
            "evidence": [
                {
                    "id": "615896",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615896"
                },
                {
                    "id": "0110710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ABD6-1",
            "uniprot_ac": "A0A8I6ABD6",
            "uniprot_id": "A0A8I6ABD6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 71",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt71",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ABD6-1",
            "evidence": [
                {
                    "id": "0110710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110710"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110710"
}