Bardet-Biedl syndrome 12

Summary
Synonym
  • BBS12
Definition
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
Super Class
Bardet-Biedl syndrome
External Links
Disease Ontology
DOID:0110134
Mondo Disease Ontology
MeSH
OMIM
GARD
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
Related Glycoprotein

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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