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Standards Ontologies Notations
Bardet-Biedl syndrome 14

Summary
Synonym
  • BBS14
Definition
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
Super Class
Bardet-Biedl syndrome
Disease Ontology
DOID:0110136
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
91147 TMEM67 transmembrane protein 67
Displaying all 2 entries
Gene ID Gene Symbol Description Source
216274 Cep290 centrosomal protein 290
329795 Tmem67 transmembrane protein 67
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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: December 9, 2024