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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Brooke-Spiegler syndrome
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Accession:DOID:0050693 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: Ancell-Spiegler cylindromas;   BRSS;   BSS;   Brooke-Fordyce trichoepitheliomas;   CYLD cutaneous syndrome;   EAC;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   MFT1;   SBS;   Turban tumor syndrome;   Turban tumors;   dermal eccrine cylindroma;   dermal eccrine cylindromas;   epithelioma adenoides cysticum of Brooke;   familial cylindromatosis;   familial trichoepithelioma;   hereditary multiple benign cystic epithelioma;   multiple familial trichoepithelioma;   multiple familial trichoepithelioma 1
 xref: GARD:10179;   MESH:C536611;   MIM:132700;   MIM:601606;   MIM:605041;   MONDO:0007565;   ORDO:79493


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Brooke-Spiegler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1		 OMIM
CTD
ClinVar		 PMID:10835629 PMID:12190880 PMID:12950348 PMID:14632188 PMID:15854031 More... NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Hereditary Neoplastic Syndromes 1526
        Brooke-Spiegler syndrome 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                Brooke-Spiegler syndrome 1
paths to the root