About   Help   FAQ
Disease Ontology Browser
junctional epidermolysis bullosa non-Herlitz type (DOID:0060738)
Alliance: disease page
Synonyms: GABEB; generalized atrophic benign epidermolysis bullosa; generalized junctional epidermolysis bullosa, non-Herlitz type; JEB-nH gen; JEN-nH; junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa, Disentis type
Alt IDs: OMIM:226650, ICD10CM:Q81.8, ORDO:79402, ORDO:89840
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.

Disease References using Mouse Models (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory