Search on: FRASER SYNDROME 
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Descriptor English:   Fraser Syndrome 
Descriptor Spanish:   Síndrome de Fraser 
Descriptor Portuguese:   Síndrome de Fraser 
Tree Number:   C11.250.390
C16.131.077.371
C16.131.384.442
Definition English:   Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. 
Indexing Annotation English:   do not confuse with FRASIER SYNDROME
See Related English:   Frasier Syndrome
 
History Note English:   2011 
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:   53969 
Unique Identifier:   D058497 

Occurrence in VHL: 		 

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