Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607684
http://purl.bioontology.org/ontology/OMIM/607684
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E
CMT2E
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E
CMT2E
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
|
| Gene Symbol |
CMT2E
NEFL
CMT1F
CMTDIG
|
| Scope Statement | Caused by mutation in the light polypeptide neurofilament protein gene (NEFL, 162280.0001) [MOLECULAR BASIS]
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Variable age of onset (range first to third decade) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Some patients may become wheelchair-bound [MISCELLANEOUS]
Upper limb involvement occurs later [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 8p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607684
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1843225
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |