About   Help   FAQ
Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2S (DOID:0110171)
Alliance: disease page
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth disease type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S
Alt IDs: OMIM:616155, ORDO:443073
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

Disease References using Mouse Models (1)
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