Terminology Service for NFDI4Health

Brooke-Spiegler syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050693


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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

Brooke-Spiegler syndrome

Synonyms
  • BRSS
  • BSS
  • CYLD cutaneous syndrome
  • SBS
  • Spiegler-Brooke Syndrome
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

created by

snadendla

creation date

2011-06-17T04:34:10Z

has obo namespace

disease_ontology

id

DOID:0050693