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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, generalized atrophic benign epidermolysis bullosa, generalized junctional epidermolysis bullosa, non-Herlitz type, JEB-nH gen, JEN-nH, junctional epidermolysis bullosa, Disentis type, junctional epidermolysis bullosa generalisata mitis
Xenbase Genes
:
lamb3,
lama3,
lamc2,
itgb4,
col17a1
| MONDO:0019307 - epithelium of external nose |
| MIM:226650 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; JEB1A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee