OBO ID: DOID:4959
Term Name: epidermolysis bullosa dystrophica Search Ontology:
Synonyms:
  • Dystrophic epidermolysis bullosa
Definition: An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
References:
  • GARD:2150
  • ICD10CM:Q81.2
  • MESH:D016108
  • NCI:C84691
  • SNOMEDCT_US_2023_03_01:254185007
  • UMLS_CUI:C0079294
Ontology: Human Disease   ( DOID:4959 )
Relationships
is a type of:
has subtype:
OTHER epidermolysis bullosa dystrophica PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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.