Term Name: recessive dystrophic epidermolysis bullosa
Synonyms: autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, RDEB, Hallopeau-Siemens type, severe generalized RDEB, severe generalized recessive dystrophic epidermolysis bullosa
Definition: An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
Ontology: Human Disease [DOID:0060642]   ( DOID:0060642 )

Relationships
is a type of: autosomal recessive disease epidermolysis bullosa dystrophica