congenital myopathy 5

Summary

DOID:0081341 - congenital myopathy 5

Disease Ontology Definition:A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.

Synonyms: congenital myopathy-5 with cardiomyopathy, Salih myopathy

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

: ttn

MIM:

MIM:611705 - CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYO5

MIM:611705 - CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYO5

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), congenital myopathy (is_a)