Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Griscelli syndrome type 1
Summary
- Synonym
-
- GS1
- Griscelli syndrome with neurological impairment
- Griscelli syndrome, cutaneous and neurological type
- Griscelli-Prunieras syndrome type 1
- hypopigmentation-neurologic impairment syndrome
- Definition
- A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
- Super Class
- Griscelli syndrome
External Links
- Disease Ontology
- DOID:0060832
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
