Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
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,

Echinobase Genes :


OMIM:
MIM:605355 - nemaline myopathy 5; nem5

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)