Human genes for recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa [DOID:0060642]
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.
Synonyms: recessive dystrophic epidermolysis bullosa, DOID:0060642, recessive dystrophic epidermolysis bullosas, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type ...