autosomal recessive limb-girdle muscular dystrophy type 2U

Summary

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

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

: crppa

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014474 - autosomal recessive limb-girdle muscular dystrophy type 2U

MONDO:0014474 - autosomal recessive limb-girdle muscular dystrophy type 2U

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)