OMIA:001678 : Epidermolysis bullosa, junctionalis, LAMC2-related |
Categories: Integument (skin) phene
Possible human homologues (MIM numbers): 226700 (trait) , 226650 (trait) , 150292 (gene)
Links to MONDO diseases: No links.
Cross-species summary: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]
Species in which this phene is found:
horse (Equus caballus)
taurine cattle (Bos taurus)
sheep (Ovis aries)
Edit History
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 12 May 2017
- Changed by Imke Tammen2 on 31 Aug 2021
- Changed by Imke Tammen2 on 30 Apr 2022