blepharospasm

Summary
Definition
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
Super Class
focal dystonia
External Links
Disease Ontology
DOID:529
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 41 - 50 of 55 in total
Gene ID Gene Symbol Description Source
51102 MECR mitochondrial trans-2-enoyl-CoA reductase
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
51477 ISYNA1 inositol-3-phosphate synthase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55650 PIGV phosphatidylinositol glycan anchor biosynthesis class V
55768 NGLY1 N-glycanase 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
84342 COG8 component of oligomeric golgi complex 8
84720 PIGO phosphatidylinositol glycan anchor biosynthesis class O
84992 PIGY phosphatidylinositol glycan anchor biosynthesis class Y

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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: August 19, 2024