autosomal recessive limb-girdle muscular dystrophy type 28

Summary

DOID:0061130 - autosomal recessive limb-girdle muscular dystrophy type 28

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.

Synonyms: LGMDR28, Limb-girdle, type 28R

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

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)