Charcot-Marie-Tooth disease type 2A2B

Summary

DOID:0111557 - Charcot-Marie-Tooth disease type 2A2B

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.

Synonyms: AR-CMT2, Ouvrier type, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, Charcot-Marie-Tooth disease, axonal, type 2A2B, CMT2A2B, SEOAN due to MFN2 deficiency, severe early-onset axonal neuropathy due to MFN2 deficiency

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

: mfn2

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)