OBO ID: DOID:0060738
Term Name: junctional epidermolysis bullosa non-Herlitz type Search Ontology:
Synonyms:
  • GABEB
  • generalized atrophic benign epidermolysis bullosa
  • generalized junctional epidermolysis bullosa, non-Herlitz type
  • JEB-nH gen
  • JEN-nH
  • 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. (5)
References:
Ontology: Human Disease   (DOID:0060738)
OTHER junctional epidermolysis bullosa non-Herlitz type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMB3 Epidermolysis bullosa, junctional 1A, intermediate 226650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None