| Metadata | |
|---|---|
| ID | DOID:0060833 |
| Name | Griscelli syndrome type 2 |
| Definition | A 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. https://www.ncbi.nlm.nih.gov/pubmed/12452176, https://www.ncbi.nlm.nih.gov/pubmed/707528 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Griscelli syndrome with hemophagocytic syndrome [EXACT] Griscelli-Prunieras syndrome type 2 [EXACT] GS2 [EXACT] hypopigmentation-immunodeficiency with or without neurologic impairment syndrome [EXACT] PAID syndrome [EXACT] partial albinism and immunodeficiency syndrome [EXACT] |
| Parent Relationships |
is_a Griscelli syndrome |