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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: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)