Summary Literature (0)

DOID:0110155 - Charcot-Marie-Tooth disease type 2A2

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2.

Synonyms: CMT2A2, Charcot-Marie-Tooth neuronal type 2A2, Charcot-Marie-Tooth neuropathy type 2A2, HMSN IIA2, HMSN2A2, autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2, hereditary motor and sensory neuropathy IIA2,

Echinobase Genes :


OMIM:

OMIM:609260 - charcot-marie-tooth disease, axonal, type 2a2; cmt2a2

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

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