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Summary Literature (0)
DOID:0110640 - congenital muscular dystrophy due to LMNA mutation

Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.

Synonyms: L-CMD, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy LMNA-related,

Xenbase Genes : lmna

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013178 - congenital muscular dystrophy due to LMNA mutation


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), congenital muscular dystrophy (is_a)