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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: congenital muscular dystrophy LMNA-related, L-CMD, LMNA-related congenital muscular dystrophy
Xenbase Genes : lmna
MONDO:0013178 - congenital muscular dystrophy due to LMNA mutation |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee