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General Information
ZIRC
OBO ID: DOID:0080510
Term Name: epidermolysis bullosa simplex localized type Search Ontology:
Synonyms:
  • epidermolysis bullosa simplex Weber-Cockayne type
Definition: An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet.https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources
References:
Ontology: Human Disease   (DOID:0080510)
OTHER epidermolysis bullosa simplex localized type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITGB4 Epidermolysis bullosa of hands and feet 131800
KRT5 Epidermolysis bullosa simplex, Weber-Cockayne type 131800
KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type 131800
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None