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nemaline myopathy 2
Summary
- Synonym
-
- NEM2
- congenital myopathy 2
- nemaline myopathy 2, autosomal recessive
- Definition
- A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110928
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003552 | Muscle stiffness |
| HP:0003690 | Limb muscle weakness |
| HP:0003691 | Scapular winging |
| HP:0005855 | Multiple prenatal fractures |
| HP:0007514 | Edema of the dorsum of hands |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0006829 | Severe muscular hypotonia |
| HP:0003798 | Nemaline bodies |
| HP:0009025 | Increased connective tissue |
| HP:0010628 | Facial palsy |
