Ontology Browser

Term:
epidermolysis bullosa simplex (DOID:4644)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (6) Bonobo: (7) Dog: (7) Squirrel: (6)
Parent Terms Term With Siblings Child Terms
Bullous Dystrophy, Hereditary Macular Type 
epidermolysis bullosa acquisita 
epidermolysis bullosa dystrophica +   
epidermolysis bullosa simplex +   
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.
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 
Epidermolysis Bullosa with Diaphragmatic Hernia 
Epidermolysis Bullosa, Lethal Acantholytic  
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive  
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital  
junctional epidermolysis bullosa +   
Kindler syndrome  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  

Synonyms
Exact Synonyms: Epidermolysis Bullosa Simplex, Cockayne Touraine Type ;   Epidermolysis Bullosa Simplices
Narrow Synonyms: Epidermolysis bullosa, simplex, PLEC ;   Epidermolysis bullosa, simplex, PLEC-related
Primary IDs: MESH:D016110
Alternate IDs: OMIA:002080 ;   RDO:0000628
Xrefs: GARD:10752
Definition Sources: MESH:D016110, https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.