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DOID:0060737 - junctional epidermolysis bullosa Herlitz type
Disease Ontology 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.
Synonyms: epidermolysis bullosa letalis, Herlitz-Pearson-type epidermolysis bullosa, Herlitz type epidermolysis bullosa junctionalis, JEB-H, JEB-Herlitz type, junctional epidermolysis bullosa generalisata gravis, junctional epidermolysis bullosa, Herlitz-Pearson type
Xenbase Genes
:
lamb3,
lama3,
lamc2
| MONDO:0009182 - junctional epidermolysis bullosa Herlitz type |
| MIM:226700 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; JEB1B |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee