Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
junctional epidermolysis bullosa non-Herlitz type
Summary
- Synonym
-
- GABEB
- JEB-nH gen
- JEN-nH
- generalized atrophic benign epidermolysis bullosa
- generalized junctional epidermolysis bullosa, non-Herlitz type
- junctional epidermolysis bullosa generalisata mitis
- junctional epidermolysis bullosa, Disentis type
- Definition
- A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
- Super Class
- autosomal recessive disease junctional epidermolysis bullosa
External Links
- Disease Ontology
- DOID:0060738
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51570 | Galactokinase |
