| Metadata | |
|---|---|
| ID | DOID:0060738 |
| Name | junctional epidermolysis bullosa non-Herlitz 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. https://www.ncbi.nlm.nih.gov/pubmed/10792571, https://www.ncbi.nlm.nih.gov/pubmed/11810295, https://www.ncbi.nlm.nih.gov/pubmed/18374450, https://www.ncbi.nlm.nih.gov/pubmed/7550320, https://www.ncbi.nlm.nih.gov/pubmed/7706760 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
GABEB [EXACT] generalized atrophic benign epidermolysis bullosa [EXACT] generalized junctional epidermolysis bullosa, non-Herlitz type [EXACT] JEB-nH gen [EXACT] JEN-nH [EXACT] junctional epidermolysis bullosa generalisata mitis [EXACT] junctional epidermolysis bullosa, Disentis type [EXACT] |
| Parent Relationships |