You are using an outdated browser. Please upgrade your browser to improve your experience.

Birbeck granule deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity.
Mondo Term and Equivalent IDs
MONDO:0013251:  Birbeck granule deficiency
UMLS:C3150657: