autosomal recessive limb-girdle muscular dystrophy type 2G

Summary

DOID:0110281 - autosomal recessive limb-girdle muscular dystrophy type 2G

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).

Synonyms: LGMD2G, limb-girdle muscular dystrophy due to telethonin deficiency, muscular dystrophy, limb-girdle, type 2G

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

: tcap

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011170 - autosomal recessive limb-girdle muscular dystrophy type 2G

MONDO:0011170 - autosomal recessive limb-girdle muscular dystrophy type 2G

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)