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Griscelli syndrome type 2
Summary
- Synonym
-
- GS2
- Griscelli syndrome with hemophagocytic syndrome
- Griscelli-Prunieras syndrome type 2
- PAID syndrome
- hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
- partial albinism and immunodeficiency syndrome
- 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.
- Super Class
- Griscelli syndrome
External Links
- Disease Ontology
- DOID:0060833
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15104 | Glutamine synthetase | |
| P22304 | Iduronate 2-sulfatase |
