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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Griscelli syndrome +     
Griscelli syndrome type 1  
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. (DO)
Griscelli syndrome type 2  
Griscelli syndrome type 3  

Synonyms
Exact Synonyms: GS1 ;   Griscelli syndrome with neurologic impairment ;   Griscelli syndrome with neurological impairment ;   Griscelli syndrome, cutaneous and neurologic type ;   Griscelli syndrome, cutaneous and neurological type ;   Griscelli-Prunieras syndrome type 1 ;   Griscelli-PruniĆ©ras syndrome type 1 ;   MYO5A-RELATED CONDITION ;   Partial albinism and primary neurologic disease without hemophagocytic syndrome ;   hypopigmentation-neurologic impairment syndrome
Xrefs: GARD:2566 ;   MESH:C537301 ;   MIM:214450 ;   MONDO:0008962 ;   ORDO:79476
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207796 "DO" "DO"

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