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Descriptor English: Bardet-Biedl Syndrome
Descriptor Spanish: Síndrome de Bardet-Biedl
Descriptor síndrome de Bardet-Biedl
Entry term(s) síndrome de Laurence-Moon-Bardet-Biedl
Scope note: Trastorno autosómico recesivo caracterizado por RETINITIS PIGMENTOSA, POLIDACTILIA, OBESIDAD, RETRASO MENTAL, hipogenitalismo, displasia renal y talla baja. Este síndrome se ha distinguido como entidad distinta al SÍNDROME DE LAURENCE-MOON. (J Med Genet 1997 Feb;34(2):92-8)
Descriptor Portuguese: Síndrome de Bardet-Biedl
Descriptor French: Syndrome de Bardet-Biedl
Entry term(s): Bardet Biedl Syndrome
Laurence Moon Bardet Biedl Syndrome
Laurence-Moon-Bardet-Biedl Syndrome
Syndrome, Bardet-Biedl
Syndrome, Laurence-Moon-Bardet-Biedl
Tree number(s): C10.228.140.617.200
C11.270.684.624
C16.131.077.245.125
C16.320.184.125
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D020788
Scope note: 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)
Annotation: note entry term: do not confuse with LAURENCE-MOON SYNDROME
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Bardet-Biedl Syndrome (1966-1999)
Public MeSH Note: 2000
History Note: 2000
Related: Intellectual Disability MeSH
DeCS ID: 34282
Unique ID: D020788
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2000/01/01
Date of Entry: 1999/11/08
Revision Date: 2018/06/15
Bardet-Biedl Syndrome - Preferred
Concept UI M0328149
Scope note 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)
Preferred term Bardet-Biedl Syndrome
Entry term(s) Bardet Biedl Syndrome
Laurence Moon Bardet Biedl Syndrome
Laurence-Moon-Bardet-Biedl Syndrome
Syndrome, Bardet-Biedl
Syndrome, Laurence-Moon-Bardet-Biedl



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