Properties

MORBIDMAP :NAME MM: Muscular dystrophy with epidermolysis bullosa simplex :MORBID_ID 226670 :NUM 3 :SYM (PLEC1 PLEC PLTN EBS1 LGMD2Q) :LOCUS 8q24.3 :OMIM_ID 601282 :SNP EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; PLEC1, ARG2110TRP; rs80338756 :AAUSHI EPIDERMOLYSIS_BULLOSA_SIMPLEX MUSCULAR_DYSTROPHY :AAUSHIGENE PLECTIN_1