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)
ID
http://purl.bioontology.org/ontology/MESH/D020788
altLabel
Syndrome, Laurence-Moon-Bardet-Biedl
Laurence-Moon-Bardet-Biedl Syndrome
Syndrome, Bardet-Biedl
Laurence Moon Bardet Biedl Syndrome
Bardet Biedl Syndrome
AN
note entry term: do not confuse with LAURENCE-MOON SYNDROME
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui
C0752166
DC
1
definition
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)
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