OBO ID: DOID:0060832
Term Name: Griscelli syndrome type 1 Search Ontology:
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)
OTHER Griscelli syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MYO5A Griscelli syndrome, type 1 214450
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None