{
    "disease_id": "DOID:0050693",
    "recommended_name": {
        "id": "DOID:0050693",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050693",
        "name": "Brooke-Spiegler syndrome",
        "description": "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12."
    },
    "synonyms": [
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "name": "BRSS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "name": "BSS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "name": "CYLD cutaneous syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "name": "SBS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "name": "Spiegler-Brooke Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "Brooke-Spiegler syndrome",
            "description": "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma."
        },
        {
            "id": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "Brooke-Spiegler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "CYLD cutaneous syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "BRSS",
            "description": ""
        },
        {
            "id": "MIM:605041",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605041",
            "name": "Brooke-Spiegler syndrome",
            "description": "Brooke-Spiegler syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050693"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050693",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050693",
            "categories": []
        },
        {
            "id": "MONDO:0011512",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "categories": []
        },
        {
            "id": "MIM:605041",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605041",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6V2-1",
            "uniprot_ac": "A0ACD6B6V2",
            "uniprot_id": "A0ACD6B6V2_DANRE",
            "refseq_ac": "XP_684817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyld",
                    "type": "recommended"
                },
                {
                    "name": "cyld",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6V2-1",
            "evidence": [
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F048-1",
            "uniprot_ac": "E7F048",
            "uniprot_id": "E7F048_DANRE",
            "refseq_ac": "XP_009304333",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ubiquitinyl hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyld2",
                    "type": "recommended"
                },
                {
                    "name": "cyld2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F048-1",
            "evidence": [
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TQ2-1",
            "uniprot_ac": "Q80TQ2",
            "uniprot_id": "CYLD_MOUSE",
            "refseq_ac": "NP_001121642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                },
                {
                    "name": "cylindromatosis (turban tumor syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyld",
                    "type": "recommended"
                },
                {
                    "name": "2010013M14Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900009M21Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130039D01Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDMT",
                    "type": "synonym"
                },
                {
                    "name": "CYLD1",
                    "type": "synonym"
                },
                {
                    "name": "Cyld1",
                    "type": "synonym"
                },
                {
                    "name": "Cyld",
                    "type": "synonym"
                },
                {
                    "name": "EAC",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0849",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0849",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TQ2-1",
            "evidence": [
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQC7-1",
            "uniprot_ac": "Q9NQC7",
            "uniprot_id": "CYLD_HUMAN",
            "refseq_ac": "NP_001035814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                },
                {
                    "name": "cylindromatosis (turban tumor syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase like 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYLD",
                    "type": "recommended"
                },
                {
                    "name": "BRSS",
                    "type": "synonym"
                },
                {
                    "name": "CDMT",
                    "type": "synonym"
                },
                {
                    "name": "CYLD1",
                    "type": "synonym"
                },
                {
                    "name": "CYLDI",
                    "type": "synonym"
                },
                {
                    "name": "CYLD",
                    "type": "synonym"
                },
                {
                    "name": "EAC",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS8",
                    "type": "synonym"
                },
                {
                    "name": "HSPC057",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0849",
                    "type": "synonym"
                },
                {
                    "name": "MFT1",
                    "type": "synonym"
                },
                {
                    "name": "MFT",
                    "type": "synonym"
                },
                {
                    "name": "SBS",
                    "type": "synonym"
                },
                {
                    "name": "TEM",
                    "type": "synonym"
                },
                {
                    "name": "USPL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQC7-1",
            "evidence": [
                {
                    "id": "605041",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605041"
                },
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H62-1",
            "uniprot_ac": "Q66H62",
            "uniprot_id": "CYLD_RAT",
            "refseq_ac": "NP_001017380",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein S3a-like",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                },
                {
                    "name": "cylindromatosis (turban tumor syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme CYLD",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase CYLD-like",
                    "type": "synonym"
                },
                {
                    "name": "probable ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase CYLD",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease CYLD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyld",
                    "type": "recommended"
                },
                {
                    "name": "Cyld1",
                    "type": "synonym"
                },
                {
                    "name": "Cyld",
                    "type": "synonym"
                },
                {
                    "name": "LRRGT00003",
                    "type": "synonym"
                },
                {
                    "name": "Rp1h",
                    "type": "synonym"
                },
                {
                    "name": "Rp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H62-1",
            "evidence": [
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPC5-1",
            "uniprot_ac": "Q8IPC5",
            "uniprot_id": "Q8IPC5_DROME",
            "refseq_ac": "NP_609371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ubiquitinyl hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "CG5603-PE",
                    "type": "synonym"
                },
                {
                    "name": "CYLD-PE",
                    "type": "synonym"
                },
                {
                    "name": "cylindromatosis ortholog",
                    "type": "synonym"
                },
                {
                    "name": "cylindromatosis, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYLD",
                    "type": "recommended"
                },
                {
                    "name": "CG5603",
                    "type": "synonym"
                },
                {
                    "name": "CYLD",
                    "type": "synonym"
                },
                {
                    "name": "Cyld",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5603",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5603",
                    "type": "synonym"
                },
                {
                    "name": "Q8IPC5",
                    "type": "synonym"
                },
                {
                    "name": "cyld",
                    "type": "synonym"
                },
                {
                    "name": "dCYLD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPC5-1",
            "evidence": [
                {
                    "id": "0050693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050693"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050693"
}