OBO ID: DOID:0110927
Term Name: nemaline myopathy 3 Search Ontology:
Synonyms:
  • congenital myopathy 2A
  • 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 )
Relationships
is a type of:
inverse disjoint_from:
OTHER nemaline myopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACTA1 Congenital myopathy 2A, typical, autosomal dominant 161800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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