nemaline myopathy 5A

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tnnt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011539 - nemaline myopathy 5

MONDO:0011539 - nemaline myopathy 5

MIM:

MIM:605355 - NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A

MIM:605355 - NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A

Other Model Organisms: Alliance, 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)