recessive dystrophic epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
MONDO:0006543
epidermolysis bullosa dystrophica
is_a
EBD inversa
exact
RDEB
related
RDEB generalisata gravis
exact
RDEB, Hallopeau-Siemens type
exact
RDEB, severe generalised
related
RDEB, severe generalized
related
RDEB-sev gen
exact
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
exact
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
exact
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)
related
epidermolysis bullosa dystrophica, AR
exact
epidermolysis bullosa dystrophica, autosomal recessive
related
epidermolysis bullosa dystrophica, autosomal recessive, modifier of
exact
epidermolysis bullosa dystrophica, generalised severe, autosomal recessive
related
recessive dystrophic epidermolysis bullosa, severe generalised
related
recessive dystrophic epidermolysis bullosa, severe generalized
related
severe generalised RDEB
narrow
severe generalised recessive dystrophic epidermolysis bullosa
narrow