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Metadata
ID DOID:0080224
Name autosomal dominant dystrophic epidermolysis bullosa
Definition An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
Xrefs

GARD:2139

OMIM:131750

Parent Relationships

is_a epidermolysis bullosa dystrophica

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