autosomal recessive limb-girdle muscular dystrophy type 2N

Summary

DOID:0110298 - autosomal recessive limb-girdle muscular dystrophy type 2N

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

Synonyms: LGMD2N, MDDGC2, muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2

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

: pomt2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

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)