Search Ontology:
Human Disease

junctional epidermolysis bullosa Herlitz type

Term ID
DOID:0060737
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 )
Relationships
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Genes Involved
Zebrafish Models