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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital structural myopathy
Summary
- Definition
- A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
- Super Class
- congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:422
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 8776 | MTMR1 | myotubularin related protein 1 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10462 | CLEC10A | C-type lectin domain containing 10A | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 23409 | SIRT4 | sirtuin 4 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
Related Glycoprotein
