OBO ID: DOID:0110930
Term Name: nemaline myopathy 8 Search Ontology:
Synonyms:
  • NEM8
  • nemaline myopathy 8, autosomal recessive
Definition: A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/23746549
References:
Ontology: Human Disease   ( DOID:0110930 )
Relationships
is a type of:
OTHER nemaline myopathy 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KLHL40 Nemaline myopathy 8, autosomal recessive 615348
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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