autosomal recessive limb-girdle muscular dystrophy type 2L

Summary

DOID:0110284 - autosomal recessive limb-girdle muscular dystrophy type 2L

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.

Synonyms: LGMD2L, muscular dystrophy, limb-girdle, type 2L

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

: ano5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012652 - autosomal recessive limb-girdle muscular dystrophy type 2L

MONDO:0012652 - autosomal recessive limb-girdle muscular dystrophy type 2L

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)