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nemaline myopathy 3
Summary
- Synonym
-
- NEM3
- congenital myopathy 2A
- nemaline myopathy 3, autosomal dominant or recessive
- Definition
- A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110927
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003327 | Axial muscle weakness |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0001638 | Cardiomyopathy |
| HP:0002058 | Myopathic facies |
| HP:0002355 | Difficulty walking |
