# Griscelli syndrome type 2

> Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3

**Wikidata**: [Q5609615](https://www.wikidata.org/wiki/Q5609615)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Griscelli_syndrome_type_2)  
**Source**: https://4ort.xyz/entity/griscelli-syndrome-type-2


## References

1. Disease Ontology
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000069974/Orphanet_79477)
3. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)