recessive dystrophic epidermolysis bullosa (DOID:0060642)
Alliance: disease page
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
Alt IDs: OMIM:226600, ICD10CM:Q81.2, ORDO:79408
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.