RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
epidermolysis bullosa simplex with mottled pigmentation
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. (DO)
Synonyms:
exact_synonym:
EBSMP; epidermolysis bullosa simplex-MP; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering; speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering