nemaline myopathy 10

Summary

DOID:0110931 - nemaline myopathy 10

Disease Ontology Definition:A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.

Synonyms: congenital myopathy 10, NEM10

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

: lmod3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014513 - nemaline myopathy 10

MONDO:0014513 - nemaline myopathy 10

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)