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SYNDROME, FRASIER
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DeCS
Descriptor
English
:
Frasier Syndrome
Descriptor
Spanish
:
Síndrome de Frasier
Descriptor
Portuguese
:
Síndrome de Frasier
Synonyms
English
:
Syndrome, Frasier
Tree Number:
C12.706.316.096.624
C12.777.419.780.750.500.500
C13.351.875.253.096.624
C13.351.968.419.780.750.500.500
C16.131.939.316.096.624
C16.320.306
C19.391.119.096.624
Definition
English
:
A
syndrome
characterized by CHRONIC
KIDNEY
FAILURE and
GONADAL DYSGENESIS
in phenotypic
females
with
karyotype
of 46,XY or
female
individual with a normal 46,XX
karyotype
. It is caused by donor splice-site
mutations
of
Wilms tumor
suppressor gene (GENES,
WILMS TUMOR
) on
chromosome 11.
Indexing Annotation
English
:
do not confuse with
FRASER SYNDROME
See Related
English
:
Fraser Syndrome
History Note
English
:
2006; use DENYS-DRASH SYNDROME 2002-2005
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:
50492
Unique Identifier:
D052159
Occurrence in VHL
:
Similar:
DeCS