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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:613723 - muscular dystrophy, limb-girdle, type 2q; lgmd2q

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)