epidermolysis bullosa simplex 5C, with pyloric atresia
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
MONDO:0017610
epidermolysis bullosa simplex
is_a
MONDO:1060109
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
is_a
EBS-PA
exact
EBSPA
related
epidermolysis bullosa simplex 5C, with pyloric atresia
exact
epidermolysis bullosa simplex with pyloric atresia
exact