myofibrillar myopathy 1

Summary

DOID:0080092 - myofibrillar myopathy 1

Disease Ontology Definition:A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.

Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2R, desminopathy,

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

: des.1, des.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011076 - myofibrillar myopathy 1

MONDO:0011076 - myofibrillar myopathy 1

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), myofibrillar myopathy (is_a), myopathy (is_a)