Charcot-Marie-Tooth disease type 5

Summary

DOID:0080067 - Charcot-Marie-Tooth disease type 5

Disease Ontology Definition:A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.

Synonyms: hereditary motor and sensory neuropathy with pyramidal features

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:0010877 - Charcot-Marie-Tooth disease type 5

MONDO:0010877 - Charcot-Marie-Tooth disease type 5

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

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

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