Search Ontology:
Human Disease

epidermolysis bullosa dystrophica

Term ID
DOID:4959
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
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Genes Involved
Zebrafish Models