About   Help   FAQ
Disease Ontology Browser
Charcot-Marie-tooth disease type 1H (DOID:0070833)
Alliance: disease page
Synonyms: CMT1H
Alt IDs: OMIM:619764, UMLS_CUI:C5676926
Definition: A Charcot-Marie-Tooth disease type 1 characterized by foot deformities, upper or lower limb sensory disturbances, and motor deficits (mainly impaired gait) that has_material_basis_in heterozygous mutation in the FBLN5 gene, encoding fibulin-5, on chromosome 14q32. The disorder is slowly progressive and becomes more apparent with age.

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
09/08/2026
MGI 6.24 		The Jackson Laboratory