Preferred Name | Epidermolysis Bullosa Dystrophica | |
Synonyms |
|
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa_Dystrophica |
|
DEFINITION |
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
|
isDefinedBy |
A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
|
label |
Epidermolysis Bullosa Dystrophica |
|
prefixIRI |
Thesaurus:Epidermolysis_Bullosa_Dystrophica |
|
prefLabel |
Epidermolysis Bullosa Dystrophica |
|
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa |
Create mapping