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Standards Ontologies Notations
hyperekplexia 3

Summary
Synonym
  • HKPX3
Definition
A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
Super Class
autosomal dominant disease autosomal recessive disease hyperekplexia
Disease Ontology
DOID:0060698
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9152 SLC6A5 solute carrier family 6 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
171148 Slc6a5 solute carrier family 6 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
37772 GlyT Glycine transporter
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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