FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Griscelli syndrome type 2 ID (Ontology) DOID:0060833 (Human Disease)
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.
Also Known As "Griscelli syndrome with hemophagocytic syndrome" ; "Griscelli-Prunieras syndrome type 2" ; "GS2" (for all, see Synonyms field below)
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 Genes
 Griscelli syndrome type 2       1
 for disease ribbon | Griscelli syndrome type 2       1
 model of | Griscelli syndrome type 2       1
Spanning Tree (Parents/Children)
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autosomal recessive disease___
integumentary system disease__|
                              Griscelli syndrome
                               |__Griscelli syndrome type 2  1 rec.
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Synonyms
  • "Griscelli syndrome with hemophagocytic syndrome" EXACT
    "Griscelli-Prunieras syndrome type 2" EXACT
    "GS2" EXACT OMO:0003012
    "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT
    "PAID syndrome" EXACT
    "partial albinism and immunodeficiency syndrome" EXACT
Secondary IDs
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GARD:4483
MESH:C537302
MIM:607624
NCI:C111814
ORDO:79477
UMLS_CUI:C1868679