Search on: FRASIER SYNDROME 
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Descriptor English:   Frasier Syndrome 
Descriptor Spanish:   Síndrome de Frasier 
Descriptor Portuguese:   Síndrome de Frasier 
Tree Number:   C12.706.445
C13.351.875.420
C16.131.939.445
Definition English:   A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or 46,XX. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11. 
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
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:   50492 
Unique Identifier:   D052159 

Occurrence in VHL: 		 

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