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

attenuated Chédiak-Higashi syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Mondo Term and Equivalent IDs
MONDO:0018133:  attenuated Chédiak-Higashi syndrome
Orphanet:352723: 
SCTID:720520009: 
UMLS:C4304022: 
UMLS:CN204519: