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DO Term : Griscelli syndrome type 1 [DOID:0060832] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
  • synonyms:
  • UMLS_CUI:C1859194,
  • MESH:C537301,
  • GARD:2566,
  • 214450,
  • Griscelli syndrome with neurological impairment,
  • ORDO:79476,
  • Griscelli-Prunieras syndrome type 1,
  • GS1,
  • SNOMEDCT_US_2023_03_01:1254946006,
  • Griscelli syndrome, cutaneous and neurological type,
  • hypopigmentation-neurologic impairment syndrome,
  • OMIM:214450
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