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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:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000239 | Large fontanelles |
| HP:0000369 | Low-set ears |
| HP:0000602 | Ophthalmoplegia |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0000883 | Thin ribs |
| HP:0001181 | Adducted thumb |
| HP:0001270 | Motor delay |
