autosomal recessive limb-girdle muscular dystrophy type 2K

Summary

DOID:0110297 - autosomal recessive limb-girdle muscular dystrophy type 2K

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

Synonyms: LGMD2K, limb-girdle muscular dystrophy-intellectual disability syndrome, MDDGC1, muscular dystrophy limb-girdle type 2K, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pomt1

OMIM:

MIM:609308 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1; mddgc1

MIM:609308 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1; mddgc1

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)