OBO ID: DOID:0110929
Term Name: nemaline myopathy 9 Search Ontology:
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 )
OTHER nemaline myopathy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KLHL41 Nemaline myopathy 9 615731
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None