autosomal recessive limb-girdle muscular dystrophy type 2M

Summary

DOID:0110296 - autosomal recessive limb-girdle muscular dystrophy type 2M

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.

Synonyms: LGMD2M, MDDGC4, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4

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

: fktn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012699 - autosomal recessive limb-girdle muscular dystrophy type 2M

MONDO:0012699 - autosomal recessive limb-girdle muscular dystrophy type 2M

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

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

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)