Bardet-Biedl Syndrome [Bardetův-Biedlův syndrom]

topical
19
Terms

diencefaloretinální degenerace
Laurenceův-Moonův-Bardetův-Biedlův syndrom

 

Laurence-Moon-Bardet-Biedl Syndrome

Persistent link   https://www.medvik.cz/link/D020788
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)

Annotation
note entry term: do not confuse with LAURENCE-MOON SYNDROME
DUI
D020788 MeSH Browser
CUI
M0328149
Previous indexing
Bardet-Biedl Syndrome (1966-1999)
History note
2000
Public note
2000

C Diseases
C10.228.140 Brain Diseases 1 183
C10.228.140.617 Hypothalamic Diseases 35
C10.228.140.617.200 Bardet-Biedl Syndrome 19
C10.228.140.617.477 Hypothalamic Neoplasms 16
C10.228.140.617.500 Laurence-Moon Syndrome 6
C10.228.140.617.738 Pituitary Diseases 126
C11 Eye Diseases 1 495
C11.270.684 Retinitis Pigmentosa 56
C11.270.684.249 Alstrom Syndrome 1
C11.270.684.624 Bardet-Biedl Syndrome 19
C16.131.077.245 Ciliopathies 9
C16.131.077.245.063 Alstrom Syndrome 1
C16.131.077.245.125 Bardet-Biedl Syndrome 19
C16.131.077.245.250 Caroli Disease 6
C16.131.077.245.500 Ciliary Motility Disorders 57
C16.131.077.245.750 von Hippel-Lindau Disease 57
C16.320.184 Ciliopathies 9
C16.320.184.063 Alstrom Syndrome 1
C16.320.184.125 Bardet-Biedl Syndrome 19
C16.320.184.250 Caroli Disease 6
C16.320.184.500 Ciliary Motility Disorders 57
C16.320.184.625 Polycystic Kidney Diseases 83
C16.320.184.750 von Hippel-Lindau Disease 57

Bardet-Biedl Syndrome 10 Disease MeSH Browser

Bardet-Biedl Syndrome 11 Disease MeSH Browser

Bardet-Biedl Syndrome 12 Disease MeSH Browser

Bardet-Biedl Syndrome 13 Disease MeSH Browser

Bardet-Biedl Syndrome 14 Disease MeSH Browser

Bardet-Biedl Syndrome 6 Disease MeSH Browser

Bardet-Biedl Syndrome 7 Disease MeSH Browser

Bardet-Biedl Syndrome 8 Disease MeSH Browser

Bardet-Biedl Syndrome 9 Disease MeSH Browser

Bardet-Biedl syndrome 1 Disease MeSH Browser

Bardet-Biedl syndrome 2 Disease MeSH Browser

Bardet-Biedl syndrome 3 Disease MeSH Browser

Bardet-Biedl syndrome 4 Disease MeSH Browser