Summary Literature (0)

DOID:0110196 - Charcot-Marie-Tooth disease type 4G

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.

Synonyms: CMT4G, Charcot-Marie-Tooth neuropathy type 4G, HMSNR, autosomal recessive Charcot-Marie-Tooth disease type 4G, hereditary motor and sensory neuropathy Russe type,

Echinobase Genes :


OMIM:

MIM:605285 - neuropathy, hereditary motor and sensory, russe type; hmsnr

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

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