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Standards Ontologies Notations
Guidelines
MIRAGE
congenital myopathy

Summary
Definition
A myopathy that is characterized by hypotonia and weakness, usually present from birth.
Super Class
myopathy
Disease Ontology
DOID:0081337
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24131 Ldb3 LIM domain binding 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9JKS4 LIM domain-binding protein 3
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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 8, 2025