nemaline myopathy 3

Summary

DOID:0110927 - nemaline myopathy 3

Disease Ontology Definition:A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Synonyms: NEM3, congenital myopathy 2A, nemaline myopathy 3, autosomal dominant or recessive,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: acta1, tpm3, tpm2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008070 - nemaline myopathy 3

MONDO:0008070 - nemaline myopathy 3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), nemaline myopathy (is_a)