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Standards Ontologies Notations
epidermolysis bullosa dystrophica

Summary
Synonym
  • 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.
Super Class
epidermolysis bullosa
Disease Ontology
DOID:4959
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1294 COL7A1 collagen type VII alpha 1 chain
3486 IGFBP3 insulin like growth factor binding protein 3
4312 MMP1 matrix metallopeptidase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12836 Col7a1 collagen, type VII, alpha 1
16009 Igfbp3 insulin-like growth factor binding protein 3
83995 Mmp1a matrix metallopeptidase 1a (interstitial collagenase)
Displaying 1 entry
Gene ID Gene Symbol Description Source
24484 Igfbp3 insulin-like growth factor binding protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
178748 zmp-3 Matrix metalloproteinase-C
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024