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Standards Ontologies Notations
congenital myopathy

Summary
Definition
A myopathy that is characterized by hypotonia and weakness, usually present from birth.
Super Class
myopathy
Disease Ontology
DOID:0081337
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4604 MYBPC1 myosin binding protein C1
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
11155 LDB3 LIM domain binding 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24131 Ldb3 LIM domain binding 3
30963 Hacd1 3-hydroxyacyl-CoA dehydratase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
36740 Zasp52 Z band alternatively spliced PDZ-motif protein 52
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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