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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:0001349 | Facial diplegia |
| HP:0001371 | Flexion contracture |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001622 | Premature birth |
| HP:0001623 | Breech presentation |
| HP:0002015 | Dysphagia |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002375 | Hypokinesia |
| HP:0002804 | Arthrogryposis multiplex congenita |
