 Bardet-Biedl Syndrome
"Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D020788
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| MeSH Number(s) |
C10.228.140.617.200 C16.131.077.112
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| Concept/Terms |
Bardet-Biedl Syndrome- Bardet-Biedl Syndrome
- Bardet Biedl Syndrome
- Syndrome, Bardet-Biedl
- Laurence-Moon-Bardet-Biedl Syndrome
- Laurence Moon Bardet Biedl Syndrome
- Syndrome, Laurence-Moon-Bardet-Biedl
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Below are MeSH descriptors whose meaning is more general than "Bardet-Biedl Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bardet-Biedl Syndrome".
This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles.
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Bonder MJ, Smail C, Gloudemans MJ, Fr?sard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 03; 53(3):313-321.
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