epidermolysis bullosa simplex 5B, with muscular dystrophy
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
MONDO:0002254
syndromic disease
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016198
neuromuscular disease caused by qualitative or quantitative defects of plectin
is_a
MONDO:0017610
epidermolysis bullosa simplex
is_a
MONDO:1060109
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
is_a
EBS-MD
exact
EBSMD
related
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
related
Epidermolysa bullosa simplex with muscular dystrophy
related
MD-EBS
related
MDEBS
related
epidermolysis bullosa simplex - limb girdle muscular dystrophy
related
epidermolysis bullosa simplex 5B, with muscular dystrophy
exact
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
exact
epidermolysis bullosa simplex with muscular dystrophy
exact
limb-girdle muscular dystrophy with epidermolysis bullosa simplex
exact