{
    "disease_id": "DOID:0050693",
    "recommended_name": {
        "id": "DOID:0050693",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0050693",
            "name": "BRSS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050693",
            "name": "BSS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050693",
            "name": "CYLD cutaneous syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050693",
            "name": "SBS",
            "description": ""
        },
        {
            "id": "DOID:0050693",
            "resource": "Disease Ontology",
            "url": "http://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": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "Bss",
            "description": ""
        },
        {
            "id": "MONDO:0011512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011512",
            "name": "Spiegler-Brooke syndrome",
            "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": []
}
