Search on: BARDET-BIEDL SYNDROME 
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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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
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:   34282 
Unique Identifier:   D020788 

Occurrence in VHL: 		 

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