autosomal recessive limb-girdle muscular dystrophy type 2Q

Summary

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

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

: plec

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013390 - autosomal recessive limb-girdle muscular dystrophy type 2Q

MONDO:0013390 - autosomal recessive limb-girdle muscular dystrophy type 2Q

MIM:

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

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

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)