{
    "disease_id": "DOID:0111574",
    "recommended_name": {
        "id": "DOID:0111574",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111574",
        "name": "autosomal recessive woolly hair 3",
        "description": "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111574",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111574",
            "name": "ARWH3",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "wooly hair, autosomal recessive 3",
            "description": "Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene."
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "ARWH3",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "KRT25 woolly hair (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "KRT25 wooly hair (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "woolly hair (disease) caused by mutation in KRT25",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "woolly hair, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "wooly hair (disease) caused by mutation in KRT25",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "wooly hair, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "wooly hair, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "name": "woolly hair, autosomal recessive 3, with hypotrichosis",
            "description": ""
        },
        {
            "id": "MIM:616760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616760",
            "name": "Woolly hair autosomal recessive 3",
            "description": "Woolly hair autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111574"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111574",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111574",
            "categories": []
        },
        {
            "id": "MONDO:0014765",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014765",
            "categories": []
        },
        {
            "id": "MIM:616760",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616760",
            "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": "0111574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCW2-1",
            "uniprot_ac": "Q8VCW2",
            "uniprot_id": "K1C25_MOUSE",
            "refseq_ac": "NP_598491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 25",
                    "type": "recommended"
                },
                {
                    "name": "CK-25",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "K25",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-25",
                    "type": "synonym"
                },
                {
                    "name": "Type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "keratin 25A",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 25",
                    "type": "synonym"
                },
                {
                    "name": "mIRSa1",
                    "type": "synonym"
                },
                {
                    "name": "type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                },
                {
                    "name": "type I keratin KA38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt25",
                    "type": "recommended"
                },
                {
                    "name": "4631426H08Rik",
                    "type": "synonym"
                },
                {
                    "name": "CK-25",
                    "type": "synonym"
                },
                {
                    "name": "K25",
                    "type": "synonym"
                },
                {
                    "name": "Ka38",
                    "type": "synonym"
                },
                {
                    "name": "Krt25a",
                    "type": "synonym"
                },
                {
                    "name": "Krt25",
                    "type": "synonym"
                },
                {
                    "name": "mIRSa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCW2-1",
            "evidence": [
                {
                    "id": "0111574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3Z0-1",
            "uniprot_ac": "Q7Z3Z0",
            "uniprot_id": "K1C25_HUMAN",
            "refseq_ac": "NP_853512",
            "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 25",
                    "type": "recommended"
                },
                {
                    "name": "CK-25",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "K25A",
                    "type": "synonym"
                },
                {
                    "name": "K25",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-25A",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-25",
                    "type": "synonym"
                },
                {
                    "name": "Type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "keratin 25, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 25",
                    "type": "synonym"
                },
                {
                    "name": "keratin-25A",
                    "type": "synonym"
                },
                {
                    "name": "type I inner root sheath specific keratin 25 irs1",
                    "type": "synonym"
                },
                {
                    "name": "type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT25",
                    "type": "recommended"
                },
                {
                    "name": "ARWH3",
                    "type": "synonym"
                },
                {
                    "name": "KRT24IRS1",
                    "type": "synonym"
                },
                {
                    "name": "KRT25A",
                    "type": "synonym"
                },
                {
                    "name": "KRT25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3Z0-1",
            "evidence": [
                {
                    "id": "616760",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616760"
                },
                {
                    "id": "0111574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111574"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IFX0-1",
            "uniprot_ac": "Q6IFX0",
            "uniprot_id": "K1C25_RAT",
            "refseq_ac": "NP_001008822",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 25",
                    "type": "recommended"
                },
                {
                    "name": "CK-25",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "K25A",
                    "type": "synonym"
                },
                {
                    "name": "K25",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-25A",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-25",
                    "type": "synonym"
                },
                {
                    "name": "Type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                },
                {
                    "name": "Type I keratin KA38",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-25",
                    "type": "synonym"
                },
                {
                    "name": "keratin 25, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 25",
                    "type": "synonym"
                },
                {
                    "name": "keratin-25A",
                    "type": "synonym"
                },
                {
                    "name": "type I inner root sheath-specific keratin-K25irs1",
                    "type": "synonym"
                },
                {
                    "name": "type I keratin KA38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt25",
                    "type": "recommended"
                },
                {
                    "name": "Ka38",
                    "type": "synonym"
                },
                {
                    "name": "Krt25A",
                    "type": "synonym"
                },
                {
                    "name": "Krt25a",
                    "type": "synonym"
                },
                {
                    "name": "Krt25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IFX0-1",
            "evidence": [
                {
                    "id": "0111574",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111574"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111574"
}