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Standards Ontologies Notations
episodic ataxia

Summary
Synonym
  • Isaacs syndrome
Definition
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Super Class
hereditary ataxia
External Links
Disease Ontology
DOID:963
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
Related Glycoprotein
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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: August 19, 2024