OBO ID: DOID:0110934
Term Name: nemaline myopathy 7 Search Ontology:
Synonyms:
  • NEM7
  • nemaline myopathy 7, autosomal recessive
Definition: A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (2)
References:
Ontology: Human Disease   ( DOID:0110934 )
Relationships
is a type of:
OTHER nemaline myopathy 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CFL2 Nemaline myopathy 7, autosomal recessive 610687
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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