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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617882
http://purl.bioontology.org/ontology/OMIM/617882
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G |
| Synonyms |
CMTDIG
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMTDIG
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
| Gene Symbol |
CMT2E
NEFL
CMT1F
CMTDIG
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Onset usually in first or second decade [MISCELLANEOUS]
Caused by mutation in the neurofilament protein, light polypeptide gene (NEFL, 162280.0010) [MOLECULAR BASIS]
Later onset has been reported [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617882
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693509
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |