| Metadata | |
|---|---|
| ID | DOID:0111346 |
| Name | epidermolysis bullosa simplex with mottled pigmentation |
| Definition | An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. https://www.ncbi.nlm.nih.gov/pubmed/421361, https://www.ncbi.nlm.nih.gov/pubmed/8799157 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254180002 |
| Subsets |
DO_rare_slim |
| Synonyms |
EBSMP [EXACT] Epidermolysis bullosa simplex-MP [EXACT] speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering [EXACT] |
| Parent Relationships |