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Summary Literature (0)
DOID:0110285 - autosomal recessive limb-girdle muscular dystrophy type 2Q


Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.

Synonyms: LGMD2Q, autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, muscular dystrophy, limb-girdle, type 2Q

In OMIM:
OMIM:613723 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17

In Mondo Disease Ontology:
MONDO:0013390 - autosomal recessive limb-girdle muscular dystrophy type 2Q

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : plec

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)