Search on: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 
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Descriptor English:   Epidermolysis Bullosa, Junctional 
Descriptor Spanish:   Epidermólisis Ampollosa de la Unión 
Descriptor Portuguese:   Epidermólise Bolhosa Juncional 
Synonyms English:   Epidermolysis Bullosa Letalis
Herlitz Disease
Junctional Epidermolysis Bullosa
Lethal Junctional Epidermolysis Bullosa  
Tree Number:   C16.131.831.493.170
C16.320.850.275.170
C17.800.804.493.170
C17.800.827.275.170
C17.800.865.410.170
Definition English:   Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. 
History Note English:   91; HERLITZ DISEASE was HERLITZ'S DISEASE 1991-92 
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:   28926 
Unique Identifier:   D016109 

Occurrence in VHL:
 

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