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

Xenbase Genes : lmna

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011569 - Charcot-Marie-Tooth disease type 2B1

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)