Search Ontology:
Human Disease

Griscelli syndrome type 2

Term ID
DOID:0060833
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
(all 6)
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
(all 6)
Ontology
Human Disease   ( DOID:0060833 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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