Griscelli syndrome type 3

Summary

DOID:0060834 - Griscelli syndrome type 3

Disease Ontology 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.

Synonyms: Griscelli-PruniÃ©ras syndrome type 3, Griscelli-Prunieras syndrome type 3, GS3

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mlph, myo5a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012220 - Griscelli syndrome type 3

MONDO:0012220 - Griscelli syndrome type 3

MIM:

MIM:609227 - GRISCELLI SYNDROME, TYPE 3; GS3

MIM:609227 - GRISCELLI SYNDROME, TYPE 3; GS3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Griscelli syndrome (is_a)