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Echinobase
Summary Literature (0)
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 limb-girdle type 2I, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related,

Echinobase Genes :


OMIM:
MIM:607155 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5; mddgc5

Other Model Organisms: AGR, 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)