Search on: FRASER SYNDROME 
Descriptors Found: 1
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Descriptor English:   Fraser Syndrome 
Descriptor Spanish:   Síndrome de Fraser 
Descriptor Portuguese:   Síndrome de Fraser 
Synonyms English:   Cryptophthalmos Syndactyly Syndrome
Cryptophthalmos with Other Malformations
Cryptophthalmos-Syndactyly Syndrome
Cryptophthalmos-Syndactyly Syndromes
Syndrome, Fraser  
Tree Number:   C05.116.099.370.894.819.428
C05.660.585.800.428
C05.660.906.819.428
C11.250.390
C12.706.410
C13.351.875.397
C16.131.077.371
C16.131.384.442
C16.131.621.585.800.428
C16.131.621.906.819.428
C16.131.939.410
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
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:   53969 
Unique Identifier:   D058497 

Occurrence in VHL:
 

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