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 1 ID (Ontology) DOID:0060832 (Human Disease)
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.
Also Known As "Griscelli syndrome with neurological impairment" ; "Griscelli syndrome, cutaneous and neurological type" ; "Griscelli-Prunieras syndrome type 1" (for all, see Synonyms field below)
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 Genes
 Griscelli syndrome type 1       2
 for disease ribbon | Griscelli syndrome type 1       2
 model of | Griscelli syndrome type 1       2
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autosomal recessive disease___
integumentary system disease__|
                              Griscelli syndrome
                               |__Griscelli syndrome type 1  2 rec.
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Synonyms
  • "Griscelli syndrome with neurological impairment" EXACT
    "Griscelli syndrome, cutaneous and neurological type" EXACT
    "Griscelli-Prunieras syndrome type 1" EXACT
    "GS1" EXACT OMO:0003012
    "hypopigmentation-neurologic impairment syndrome" EXACT
Secondary IDs
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GARD:2566
MESH:C537301
MIM:214450
ORDO:79476
SNOMEDCT_US_2023_03_01:1254946006
UMLS_CUI:C1859194