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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
:
des.1,
des.2
| MONDO:0011076 - myofibrillar myopathy 1 |
Other Model Organisms: Alliance, 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)