loading...| Preferred Name | Epidermolysis Bullosa | |
| Synonyms |
|
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa |
|
| DEFINITION |
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. |
|
| isDefinedBy |
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. |
|
| label |
Epidermolysis Bullosa |
|
| prefixIRI |
Thesaurus:Epidermolysis_Bullosa |
|
| prefLabel |
Epidermolysis Bullosa |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Skin_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |