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DOID:2730 - epidermolysis bullosa
Disease Ontology Definition:A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
Synonyms: acantholysis bullosa, Epidermolysis bullosa, Epidermolysis bullosa (disorder)
Xenbase Genes
:
mmp1,
itga6,
lamb3,
lama3,
lamc2,
dst,
itgb4,
plec,
col17a1,
col7a1
| MONDO:0006541 - epidermolysis bullosa |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
vesiculobullous skin disease (is_a)