nemaline myopathy 8

Summary

DOID:0110930 - nemaline myopathy 8

Disease Ontology Definition:A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.

Synonyms: NEM8, nemaline myopathy 8, autosomal recessive

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

: klhl40

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014138 - nemaline myopathy 8

MONDO:0014138 - nemaline myopathy 8

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)