autosomal recessive limb-girdle muscular dystrophy type 2I

Summary

DOID:0110299 - autosomal recessive limb-girdle muscular dystrophy type 2I

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

Synonyms: LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy limb-girdle type 2I

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

: fkrp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011787 - autosomal recessive limb-girdle muscular dystrophy type 2I

MONDO:0011787 - autosomal recessive limb-girdle muscular dystrophy type 2I

MIM:

MIM:607155 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

MIM:607155 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

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)