Charcot-Marie-Tooth disease type 2B1

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lmna

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011569 - Charcot-Marie-Tooth disease type 2B1

MONDO:0011569 - Charcot-Marie-Tooth disease type 2B1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Charcot-Marie-Tooth disease type 2 (is_a), autosomal recessive disease (is_a)