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Summary Literature (0)
DOID:0110295 - autosomal recessive limb-girdle muscular dystrophy type 2U

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

Synonyms: autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency, LGMD2U, MDDGC7, muscular dystrophy-dystroglycanopathy (limb-girdle) type C7, muscular dystrophy limb-girdle type 2U

Xenbase Genes : crppa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014474 - autosomal recessive limb-girdle muscular dystrophy type 2U

MIM:
MIM:616052 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7

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)