Preferred Name | Epidermolysis Bullosa Simplex [Disease/Finding] | |
Synonyms |
Epidermolysis Bullosa Simplex |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003364 |
|
altLabel |
Epidermolysis Bullosa Simplex |
|
cui |
C0079298 |
|
MESH DEFINITION |
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. |
|
MESH DUI |
D016110 |
|
MeSH name |
Epidermolysis Bullosa Simplex |
|
MESH UI |
M0024607 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000003364 |
|
NUI |
N0000003364 |
|
prefLabel |
Epidermolysis Bullosa Simplex [Disease/Finding] |
|
SNOMED CID |
67144006 |
|
tui |
T047 |
|
subClassOf |
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