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Summary Literature (0)
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: congenital myopathy 2A, NEM3, nemaline myopathy 3, autosomal dominant or recessive

Xenbase Genes : acta1, tpm3, tpm2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008070 - nemaline myopathy 3


Other Model Organisms: Alliance, 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)