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Summary Literature (0)
DOID:0110936 - nemaline myopathy 5A

Disease Ontology Definition:A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.

Synonyms: ANM, Amish nemaline myopathy, NEM5, nemaline myopathy 5, Amish type,

Xenbase Genes : tnnt1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011539 - nemaline myopathy 5


Other Model Organisms: AGR, 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)