Search Ontology:
Human Disease

epidermolysis bullosa simplex with mottled pigmentation

Term ID
DOID:0111346
Synonyms
  • EBSMP
  • Epidermolysis bullosa simplex-MP
  • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
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. (2)
References
Ontology
Human Disease   ( DOID:0111346 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.