| Metadata | |
|---|---|
| ID | DOID:0111345 |
| Name | transient bullous dermolysis of the newborn |
| Definition | An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/16225626, https://www.ncbi.nlm.nih.gov/pubmed/9406826 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723553000 |
| Subsets |
DO_rare_slim |
| Synonyms |
DEB, bullous dermolysis of the newborn [EXACT] DEB-BDN [EXACT] |
| Parent Relationships |