autosomal recessive limb-girdle muscular dystrophy type 2S

Summary

DOID:0110287 - autosomal recessive limb-girdle muscular dystrophy type 2S

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.

Synonyms: LGMD2S, muscular dystrophy, limb-girdle, type 2S

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

: trappc11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014144 - autosomal recessive limb-girdle muscular dystrophy type R18

MONDO:0014144 - autosomal recessive limb-girdle muscular dystrophy type R18

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)