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
platelet-type bleeding disorder 11
Summary
- Synonym
-
- BDPLT11
- GP VI deficiency
- glycoprotein VI deficiency
- Definition
- A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
- Super Class
- autosomal recessive disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111057
- Mondo Disease Ontology
- ORDO
- OMIM
