OBO ID: DOID:0110927
Term Name: nemaline myopathy 3 Search Ontology:
Synonyms:
  • NEM3
  • nemaline myopathy 3, autosomal dominant or recessive
Definition: A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (2)
References:
Ontology: Human Disease   (DOID:0110927)
OTHER nemaline myopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACTA1 Myopathy, actin, congenital, with excess of thin myofilaments 161800
Nemaline myopathy 3, autosomal dominant or recessive 161800
Myopathy, actin, congenital, with cores 161800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None