About   Help   FAQ
Disease Ontology Browser
Charcot-Marie-Tooth disease type 2A2B (DOID:0111557)
Alliance: disease page
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
Alt IDs: OMIM:617087, ORDO:90118
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory