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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
OMIM:613723 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17 |
MONDO:0013390 - autosomal recessive limb-girdle muscular dystrophy type 2Q |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD