Search on: HERMANSKI-PUDLAK SYNDROME 
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Descriptor English:   Hermanski-Pudlak Syndrome 
Descriptor Spanish:   Síndrome de Hermanski-Pudlak 
Descriptor Portuguese:   Síndrome de Hermanski-Pudlak 
Synonyms English:   Hermansky-Pudlak Syndrome
Hermanski Pudlak Syndrome
Hermansky Pudlak Syndrome  
Tree Number:   C11.270.040.545.400
C15.378.100.100.515
C15.378.100.685.400
C15.378.140.735.400
C15.378.463.735.400
C16.320.099.515
C16.320.290.040.100.400
C16.320.565.100.102.100.400
C16.320.850.080.100.400
C17.800.621.440.102.100.400
C17.800.827.080.100.400
C18.452.648.100.102.100.400
Definition English:   Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. 
History Note English:   2001 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications 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:   35314 
Unique Identifier:   D022861 

Occurrence in VHL:
 
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