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Standards Ontologies Notations
Bardet-Biedl syndrome 1

Summary
Synonym
  • BBS1
Definition
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
Super Class
Bardet-Biedl syndrome
External Links
Disease Ontology
DOID:0110123
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
54965 PIGX phosphatidylinositol glycan anchor biosynthesis class X
56623 INPP5E inositol polyphosphate-5-phosphatase E
Displaying 1 entry
Gene ID Gene Symbol Description Source
56297 Arl6 ADP-ribosylation factor-like 6
Related Glycoprotein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024