Term Name: | recessive dystrophic epidermolysis bullosa |
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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 ) |