Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
nemaline myopathy 7
Summary
- Synonym
-
- NEM7
- nemaline myopathy 7, autosomal recessive
- Definition
- A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110934
- Mondo Disease Ontology
- MeSH
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002877 | Nocturnal hypoventilation |
| HP:0000767 | Pectus excavatum |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0002093 | Respiratory insufficiency |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001319 | Neonatal hypotonia |
| HP:0003306 | Spinal rigidity |
| HP:0000218 | High palate |
| HP:0002857 | Genu valgum |
