| Metadata | |
|---|---|
| ID | DOID:0060737 |
| Name | junctional epidermolysis bullosa Herlitz 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. https://www.ncbi.nlm.nih.gov/pubmed/18374450, https://www.ncbi.nlm.nih.gov/pubmed/8012393, https://www.ncbi.nlm.nih.gov/pubmed/8586427 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
epidermolysis bullosa letalis [EXACT] Herlitz type epidermolysis bullosa junctionalis [EXACT] Herlitz-Pearson-type epidermolysis bullosa [EXACT] JEB-H [EXACT] JEB-Herlitz type [EXACT] junctional epidermolysis bullosa generalisata gravis [EXACT] junctional epidermolysis bullosa, Herlitz-Pearson type [EXACT] |
| Parent Relationships |