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Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 2I (DOID:0110299)
Synonyms: LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Alt IDs: OMIM:607155, ICD10CM:G71.0, ORDO:34515
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/11/2017
MGI 6.08
The Jackson Laboratory