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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607736
http://purl.bioontology.org/ontology/OMIM/607736
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J |
| Synonyms |
CMT2J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMT2J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
|
| Gene Symbol |
DSS
CMTDID
CHN2
MPZ
CMT1B
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| Scope Statement | Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Caused by mutations in the myelin protein zero gene (MPZ, 159440.0016) [MOLECULAR BASIS]
Onset in fourth to sixth decades [MISCELLANEOUS]
Sensorineural hearing loss may be presenting feature [MISCELLANEOUS]
Upper limb involvement occurs later [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 607736
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1843153
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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 |