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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;   CYLD cutaneous syndrome;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   SBS;   Turban tumor syndrome;   Turban tumors;   dermal eccrine cylindroma;   dermal eccrine cylindromas;   familial cylindromatosis;   familial trichoepithelioma;   multiple familial trichoepithelioma
 xref: GARD:10179;   MESH:C536611;   MIM:132700;   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 		OMIM
CTD
ClinVar		 PMID:10835629 PMID:16307661 PMID:18234730 PMID:19462465 PMID:19807742 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:34,488,583...34,547,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Hereditary Neoplastic Syndromes 611
        Brooke-Spiegler syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          monogenic disease 4758
            autosomal genetic disease 4325
              autosomal dominant disease 2530
                Brooke-Spiegler syndrome 1
paths to the root