autosomal recessive limb-girdle muscular dystrophy type 2O

Summary

DOID:0110292 - autosomal recessive limb-girdle muscular dystrophy type 2O

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.

Synonyms: LGMD2O, MDDGC3, muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related, muscular dystrophy-dystroglycanopathy (limb-girdle) type C3

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

: pomgnt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013161 - autosomal recessive limb-girdle muscular dystrophy type 2O

MONDO:0013161 - autosomal recessive limb-girdle muscular dystrophy type 2O

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)