Griscelli Syndrome Type 2
Go to external page
http://purl.obolibrary.org/obo/NCIT_C111814
A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis. [ ]
Term info
Label
Griscelli Syndrome Type 2
Synonyms
- GS2
- Griscelli Syndrome Type 2
- PAID Syndrome
- Partial Albinism and Immunodeficiency Syndrome
Preferred Name
Griscelli Syndrome Type 2
Semantic Type
Disease or Syndrome
UMLS CUI
C1868679
code
C111814