autosomal dominant dystrophic epidermolysis bullosa

Term ID

DOID:0080224

Synonyms

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

References

• GARD:2139
• OMIM:131750

Ontology

Human Disease   ( DOID:0080224 )