nemaline myopathy 1

Summary

DOID:0110926 - nemaline myopathy 1

Disease Ontology Definition:A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.

Synonyms: NEM1, congenital myopathy 4B, nemaline myopathy 1, autosomal dominant or 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

: tpm3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), nemaline myopathy (is_a)