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nemaline myopathy 11
Summary
- Synonym
-
- NEM11
- nemaline myopathy 11, autosomal recessive
- Definition
- A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110933
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002312 | Clumsiness |
| HP:0000508 | Ptosis |
| HP:0003198 | Myopathy |
| HP:0001533 | Slender build |
| HP:0003552 | Muscle stiffness |
| HP:0001284 | Areflexia |
| HP:0002650 | Scoliosis |
| HP:0000276 | Long face |
| HP:0001761 | Pes cavus |
| HP:0003690 | Limb muscle weakness |
