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Term:Brooke-Spiegler syndrome
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Accession:DOID:0050693 term browser browse the term
Definition:An autosomal dominant 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. (DO)
Synonyms:exact_synonym: Ancell-Spiegler cylindromas;   BRSS;   BSS;   Brooke-Fordyce trichoepitheliomas;   Cylindromas, Dermal Eccrine;   Dermal Eccrine Cylindroma;   EAC;   Epithelioma adenoides cysticum of Brooke;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   Familial Trichoepithelioma;   Hereditary Multiple Benign Cystic Epithelioma;   MFT1;   Multiple Familial Trichoepithelioma;   SBS;   Turban tumor syndrome;   Turban tumors;   familial cylindromatosis;   multiple familial trichoepithelioma 1
 primary_id: MESH:C536611
 alt_id: OMIM:132700;   OMIM:601606;   OMIM:605041;   RDO:0002168;   RDO:0002243
 xref: GARD:10179
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Brooke-Spiegler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyld CYLD lysine 63 deubiquitinase JBrowse link 19 19,264,984 19,323,817 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of cellular proliferation 5796
      Hereditary Neoplastic Syndromes 765
        Brooke-Spiegler syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Brooke-Spiegler syndrome 1
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