OBO ID: DOID:0111346
Term Name: epidermolysis bullosa simplex with mottled pigmentation Search Ontology:
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 epidermolysis bullosa simplex with mottled pigmentation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRT5 Epidermolysis bullosa simplex 2F, with mottled pigmentation 131960
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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.