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Summary Literature (0)
DOID:0110932 - nemaline myopathy 4

Disease Ontology Definition:A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.

Synonyms: CAP myopathy 2, NEM4, nemaline myopathy 4, autosomal dominant

Xenbase Genes : tpm2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012240 - urethral meatus

MIM:
MIM:609285 - CONGENITAL MYOPATHY 23; CMYO23

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

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