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PALLISTER-HALL SYNDROME
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DeCS
Descriptor
English
:
Pallister-Hall Syndrome
Descriptor
Spanish
:
Síndrome de Pallister-Hall
Descriptor
Portuguese
:
Síndrome de Pallister-Hall
Tree Number:
C04.445.622
C04.588.614.250.195.885.500.299
C05.660.585.600.374
C10.228.140.211.885.500.299
C10.228.140.617.477.299
C10.551.240.250.700.500.249
C16.131.077.690
C16.131.621.585.600.374
Definition
English
:
A pleiotropic disorder of
human development
that comprises hypothalamic
HAMARTOMA
; central and postaxial
POLYDACTYLY
; bifid
EPIGLOTTIS
; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3
protein, a
KRUPPEL-LIKE TRANSCRIPTION FACTORS
family
member.
History Note
English
:
2009
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:
53053
Unique Identifier:
D054975
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS