| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation. (Orphanet Rare Disease Ontology, Orphanet_79397) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C535959 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Epidermolysis bullosa simplex with mottled pigmentation from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| KRT5 | keratin 5, type II | 2.88009 |
