Search on: BARDET-BIEDL SYNDROME 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Bardet-Biedl Syndrome 
Descriptor Spanish:   Síndrome de Bardet-Biedl 
Descriptor Portuguese:   Síndrome de Bardet-Biedl 
Synonyms English:   Laurence-Moon-Bardet-Biedl Syndrome  
Tree Number:   C10.228.140.617.200
C16.131.077.112
Definition English:   An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) 
Indexing Annotation English:   note entry term: do not confuse with LAURENCE-MOON SYNDROME
See Related English:   Mental Retardation
 
History Note English:   2000 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
congenital complications
diet therapy diagnosis
drug therapy economics
ethnology embryology
enzymology epidemiology
etiology genetics
history immunology
metabolism microbiology
mortality nursing
pathology prevention & control
physiopathology parasitology
psychology radiography
rehabilitation radionuclide imaging
radiotherapy surgery
therapy urine
ultrasonography veterinary
virology  
Record Number:   34282 
Unique Identifier:   D020788 

Occurrence in VHL: 		 

Similar:
  
DeCS SciELO LILACS LIS