myofibrillar myopathy 10

Summary

DOID:0112108 - myofibrillar myopathy 10

Disease Ontology Definition:A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.

Synonyms: MFM10

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

MIM:

MIM:619040 - MYOFIBRILLAR MYOPATHY 10; MFM10

MIM:619040 - MYOFIBRILLAR MYOPATHY 10; MFM10

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), myofibrillar myopathy (is_a)