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Summary Literature (0)
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: 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,

Xenbase Genes : lamb3, lama3, lamc2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009182 - junctional epidermolysis bullosa Herlitz type


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), junctional epidermolysis bullosa (is_a)