OBO ID: DOID:0060833
Term Name: Griscelli syndrome type 2 Search Ontology:
Synonyms:
  • Griscelli syndrome with hemophagocytic syndrome
  • Griscelli-Prunieras syndrome type 2
  • GS2
  • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
  • PAID syndrome
  • partial albinism and immunodeficiency syndrome
Definition: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (2)
References:
Ontology: Human Disease   ( DOID:0060833 )
OTHER Griscelli syndrome type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAB27A Griscelli syndrome, type 2 607624
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None