epidermolysis bullosa dystrophica

Term ID

DOID:4959

Synonyms

• Dystrophic epidermolysis bullosa

Definition

An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in 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:2150
• ICD10CM:Q81.2
• MESH:D016108
• NCI:C84691
• SNOMEDCT_US_2023_03_01:254185007
• UMLS_CUI:C0079294

Ontology

Human Disease   ( DOID:4959 )