X-linked recessive hypophosphatemic rickets

Summary
Definition
A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.
Super Class
X-linked recessive disease rickets
Disease Ontology
DOID:0080353
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1184 CLCN5 chloride voltage-gated channel 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
12728 Clcn5 chloride channel, voltage-sensitive 5

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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