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
COL17A1 Epidermolysis bullosa, junctional, localisata variant 226650
Epidermolysis bullosa, junctional, non-Herlitz type 226650
ITGB4 Epidermolysis bullosa, junctional, non-Herlitz type 226650
LAMA3 Epidermolysis bullosa, generalized atrophic benign 226650
LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type 226650
LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type 226650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None