junctional epidermolysis bullosa non-Herlitz type

Summary

DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type

Disease Ontology Definition:A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.

Synonyms: GABEB, JEB-nH gen, JEN-nH, generalized atrophic benign epidermolysis bullosa, generalized junctional epidermolysis bullosa, non-Herlitz type, junctional epidermolysis bullosa generalisata mitis, junctional epidermolysis bullosa, Disentis type,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lamb3, lama3, lamc2, itgb4, col17a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019307 - generalized junctional epidermolysis bullosa non-Herlitz type

MONDO:0019307 - generalized junctional epidermolysis bullosa non-Herlitz type

Other Model Organisms: Alliance, 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)