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Bardet-Biedl syndrome 19

Summary
Synonym
  • BBS19
Definition
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
Super Class
Bardet-Biedl syndrome
External Links
Disease Ontology
DOID:0110141
Mondo Disease Ontology
OMIM
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