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Summary Literature (0)
DOID:0110928 - nemaline myopathy 2

Disease Ontology Definition:A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

Synonyms: nemaline myopathy 2, autosomal recessive, congenital myopathy 2, NEM2

Xenbase Genes : neb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009725 - nemaline myopathy 2

MIM:
MIM:256030 - NEMALINE MYOPATHY 2; NEM2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), nemaline myopathy (is_a)