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Summary Literature (0)
DOID:0110156 - Charcot-Marie-Tooth disease type 2B1


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Synonyms: CMT2B1, Charcot-Marie-Tooth disease neuronal type 2B1, Charcot-Marie-Tooth neuropathy type 2B1, autosomal recessive Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1

Referenced OMIM:
OMIM:605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lmna

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a)


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