Charcot-Marie-Tooth disease type 6

Summary

DOID:0080068 - Charcot-Marie-Tooth disease type 6

Disease Ontology Definition:A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.

Synonyms: hereditary motor and sensory neuropathy type 6

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, slc25a46

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019551 - hereditary motor and sensory neuropathy type 6

MONDO:0019551 - hereditary motor and sensory neuropathy type 6

MIM:

MIM:601152 - NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A

MIM:601152 - NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A

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

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

Parent(s): Charcot-Marie-Tooth disease (is_a)