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
epidermolysis bullosa simplex Ogna type
Summary
- Synonym
-
- EBS-O
- EBS-Og
- EBSOG
- Definition
- An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
- Super Class
- autosomal dominant disease epidermolysis bullosa simplex
External Links
- Disease Ontology
- DOID:0060736
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
