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junctional epidermolysis bullosa Herlitz type
Summary
- Synonym
-
- Herlitz type epidermolysis bullosa junctionalis
- Herlitz-Pearson-type epidermolysis bullosa
- JEB-H
- JEB-Herlitz type
- epidermolysis bullosa letalis
- 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.
- Super Class
- autosomal recessive disease junctional epidermolysis bullosa
External Links
- Disease Ontology
- DOID:0060737
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
