|
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 : acta1, tpm3, tpm2
MONDO:0008070 - nemaline myopathy 3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee