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Disease Ontology Browser
nemaline myopathy 3 (DOID:0110927)
Alliance: disease page
Synonyms: congenital myopathy 2A; NEM3; nemaline myopathy 3, autosomal dominant or recessive
Alt IDs: OMIM:161800
Definition: A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory