Charcot-Marie-Tooth disease type 2A2A

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mfn2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

MIM:

MIM:609260 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A

MIM:609260 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A

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

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

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