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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616924
http://purl.bioontology.org/ontology/OMIM/616924
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC
CMT2CC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC
CMT2CC
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
|
| Gene Symbol |
NEFH
CMT2CC
|
| Scope Statement | Variable age at onset (range early childhood to fourth decade) [MISCELLANEOUS]
Caused by mutation in the neurofilament protein, heavy polypeptide gene (NEFH, 162230.0002) [MOLECULAR BASIS]
Two unrelated families have been reported (last curated April 2016) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q12.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616924
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310790
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |