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

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

• GARD:4483
• MESH:C537302
• NCI:C111814
• OMIM:607624
• ORDO:79477
• UMLS_CUI:C1868679

Ontology

Human Disease   ( DOID:0060833 )