Search Ontology:
Human Disease
nemaline myopathy 9
- Term ID
- DOID:0110929
- Synonyms
-
- NEM9
- Definition
- A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/24268659
- References
- Ontology
- Human Disease ( DOID:0110929 )
- is a type of
-
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| KLHL41 | Nemaline myopathy 9 | nemaline myopathy 9 | 615731 |
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Zebrafish Models