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BARDET-BIEDL SYNDROME
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DeCS
Descriptor
English
:
Bardet-Biedl Syndrome
Descriptor
Spanish
:
Síndrome de Bardet-Biedl
Descriptor
Portuguese
:
Síndrome de Bardet-Biedl
Synonyms
English
:
Bardet Biedl Syndrome
Laurence Moon Bardet Biedl Syndrome
Laurence-Moon-Bardet-Biedl Syndrome
Syndrome, Bardet-Biedl
Syndrome, Laurence-Moon-Bardet-Biedl
Tree Number:
C10.228.140.617.200
C11.270.684.624
C16.131.077.245.125
C16.320.184.125
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
:
Intellectual Disability
History Note
English
:
2000
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:
34282
Unique Identifier:
D020788
Occurrence in VHL
:
Similar:
DeCS