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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:0001288 | Gait disturbance |
| HP:0001319 | Neonatal hypotonia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002515 | Waddling gait |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002857 | Genu valgum |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0002970 | Genu varum |
