| Metadata | |
|---|---|
| ID | DOID:0111346 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111346 Copy |
| Name | epidermolysis bullosa simplex 2F 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 the keratin-5 gene (KRT5) on chromosome 12q13.13. https://www.ncbi.nlm.nih.gov/pubmed/421361, https://www.ncbi.nlm.nih.gov/pubmed/8799157 |
| Xrefs |
SNOMEDCT_US_2025_09_01:254180002 |
| Subsets |
DO_rare_slim |
| Synonyms |
EBSMP [EXACT] epidermolysis bullosa simplex with mottled pigmentation [EXACT] Epidermolysis bullosa simplex-MP [EXACT] speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |