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Standards Ontologies Notations
hyperekplexia 4

Summary
Definition
A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
Super Class
autosomal recessive disease hyperekplexia
Disease Ontology
DOID:0080581
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84896 ATAD1 ATPase family AAA domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
67979 Atad1 ATPase family, AAA domain containing 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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