| Metadata | |
|---|---|
| ID | DOID:4959 |
| Name | epidermolysis bullosa dystrophica |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254185007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Dystrophic epidermolysis bullosa [EXACT] |
| Parent Relationships |