autosomal dominant limb-girdle muscular dystrophy type 2

Summary

DOID:0110304 - autosomal dominant limb-girdle muscular dystrophy type 2

Disease Ontology Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1F, LGMD1F, muscular dystrophy limb-girdle type 1F

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

: tnpo3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

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

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

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