Expresión de búsqueda:
PALLISTER-HALL SYNDROME
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Pallister-Hall Syndrome
Descriptor
Español
:
Síndrome de Pallister-Hall
Descriptor
Portugués
:
Síndrome de Pallister-Hall
Categoría:
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
Definición
Inglés
:
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.
Nota Histórica
Inglés
:
2009
Calificadores Permitidos
Inglés
:
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
Número del Registro:
53053
Identificador Único:
D054975
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS