Search on: WEBER-COCKAYNE SYNDROME 
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Descriptor English:   Epidermolysis Bullosa Simplex 
Descriptor Spanish:   Epidermólisis Ampollosa Simple 
Descriptor Portuguese:   Epidermólise Bolhosa Simples 
Synonyms English:   Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Simplex Kobner
Weber-Cockayne Syndrome  
Tree Number:   C16.131.831.493.180
C16.320.850.275.180
C17.800.804.493.180
C17.800.827.275.180
C17.800.865.410.180
Definition English:   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. 
History Note English:   1991 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   28927 
Unique Identifier:   D016110 

Occurrence in VHL: 		 

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