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Echinobase
Summary Literature (0)
DOID:0110155 - Charcot-Marie-Tooth disease type 2A2A

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.

Synonyms: CMT2A2, CMT2A2A, 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:
MIM: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
Parent(s): Charcot-Marie-Tooth disease type 2 (is_a), autosomal dominant disease (is_a)