OBO ID: DOID:0060737
Term Name: junctional epidermolysis bullosa Herlitz type Search Ontology:
Synonyms:
  • epidermolysis bullosa letalis
  • Herlitz type epidermolysis bullosa junctionalis
  • Herlitz-Pearson-type epidermolysis bullosa
  • JEB-H
  • JEB-Herlitz type
  • junctional epidermolysis bullosa generalisata gravis
  • junctional epidermolysis bullosa, Herlitz-Pearson type
Definition: A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (3)
References:
Ontology: Human Disease   (DOID:0060737)
OTHER junctional epidermolysis bullosa Herlitz type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMA3 Epidermolysis bullosa, junctional, Herlitz type 226700
LAMB3 Epidermolysis bullosa, junctional, Herlitz type 226700
LAMC2 Epidermolysis bullosa, junctional, Herlitz type 226700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None