autosomal dominant limb-girdle muscular dystrophy type 3

Summary

DOID:0110306 - autosomal dominant limb-girdle muscular dystrophy type 3

Disease Ontology Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.

Synonyms: LGMD1G, autosomal dominant limb-girdle muscular dystrophy type 1G, muscular dystrophy limb-girdle type 1G,

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

: hnrnpdl

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012193 - autosomal dominant limb-girdle muscular dystrophy type 1G

MONDO:0012193 - autosomal dominant limb-girdle muscular dystrophy type 1G

Other Model Organisms: AGR, 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)