Terminology Service for NFDI4Health

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