Search Ontology:
Human Disease

Griscelli syndrome type 1

Term ID
DOID:0060832
Synonyms
  • Griscelli syndrome with neurological impairment
  • Griscelli syndrome, cutaneous and neurological type
  • Griscelli-Prunieras syndrome type 1
  • GS1
  • hypopigmentation-neurologic impairment syndrome
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0060832 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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