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HERMANSKI-PUDLAK SYNDROME
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DeCS
Descriptor
English
:
Hermanski-Pudlak Syndrome
Descriptor
Spanish
:
Síndrome de Hermanski-Pudlak
Descriptor
Portuguese
:
Síndrome de Hermanski-Pudlak
Synonyms
English
:
Hermanski Pudlak Syndrome
Hermansky 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
:
Similar:
DeCS