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DO Term : junctional epidermolysis bullosa Herlitz type [DOID:0060737] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:79404,
  • Herlitz-Pearson-type epidermolysis bullosa,
  • junctional epidermolysis bullosa, Herlitz-Pearson type,
  • JEB-Herlitz type,
  • junctional epidermolysis bullosa generalisata gravis,
  • 226700,
  • Herlitz type epidermolysis bullosa junctionalis,
  • ICD10CM:Q81.1,
  • epidermolysis bullosa letalis,
  • JEB-H,
  • OMIM:226700
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