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.

Synonyms

autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type

Cross References

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Child Terms

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recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa

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Associated Alleles

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