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 18
Summary
- Synonym
-
- BDPLT18
- bleeding disorder due to CalDAG-GEFI deficiency
- bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
- Definition
- A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
- Super Class
- autosomal recessive disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111051
- Mondo Disease Ontology
- ORDO
- OMIM
