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DO Term : Griscelli syndrome type 2 [DOID:0060833] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • partial albinism and immunodeficiency syndrome,
  • 607624,
  • Griscelli syndrome with hemophagocytic syndrome,
  • NCI:C111814,
  • OMIM:607624,
  • GARD:4483,
  • PAID syndrome,
  • GS2,
  • UMLS_CUI:C1868679,
  • ORDO:79477,
  • Griscelli-Prunieras syndrome type 2,
  • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome,
  • MESH:C537302
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Disease

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