Search on: XERODERMA PIGMENTOSUM 
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Descriptor English:   Xeroderma Pigmentosum 
Descriptor Spanish:   Xerodermia Pigmentosa 
Descriptor Portuguese:   Xeroderma Pigmentoso 
Synonyms English:   Kaposi Disease
Kaposi's Disease
Kaposis Disease  
Tree Number:   C04.834.867
C16.131.831.936
C16.320.850.970
C17.800.600.925
C17.800.621.936
C17.800.804.936
C17.800.827.970
C18.452.284.975
Definition English:   A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. 
Indexing Annotation English:   if non-neoplastic, coordinate IM with precoordinated organ/disease term (IM); if neoplastic, coordinate IM with organ/neoplasm term (IM); do not confuse KAPOSI DISEASE with SARCOMA, KAPOSI
History Note English:   63; KAPOSI DISEASE was KAPOSI'S DISEASE 1963-97 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DG diagnostic imaging
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
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   15382 
Unique Identifier:   D014983 

Occurrence in VHL:
 
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