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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12889 | Oviduct-specific glycoprotein | |
| Q13613 | Myotubularin-related protein 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q8IUN9 | C-type lectin domain family 10 member A | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
