Griscelli syndrome type 3

Definition

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.

Also known as Griscelli syndrome type 3, Griscelli-Pruni��ras syndrome type 3, Griscelli-PruniC)ras syndrome type 3, Griscelli-Pruniéras syndrome type 3, GS3 — per MONDO

Also identified as

• DOID 0060834 per MONDO
• MESH C537303 per MONDO
• OMIM 609227 per MONDO
• Orphanet 79478 per MONDO
• UMLS C1836573 per MONDO