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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606595
http://purl.bioontology.org/ontology/OMIM/606595
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F |
| Synonyms |
CMT2F
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT2F
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
| Gene Symbol |
HSPB1
HMND3
HSP27
CMT2F
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| Scope Statement | Genetic heterogeneity (see CMT2A, 118210) [MISCELLANEOUS]
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Variable age at onset (range 15 to 60 years) [MISCELLANEOUS]
Caused by mutation in the heat-shock 27-kD protein (HSPB1, 602195.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 7q11.23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 606595
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1847823
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |