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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300905
http://purl.bioontology.org/ontology/OMIM/300905
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 |
| Synonyms |
CMTX6
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMTX6
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
|
| Gene Symbol |
PDK3
CMTX6
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Onset in first decades (males) [MISCELLANEOUS]
Males are more severely affected [MISCELLANEOUS]
Patients remain ambulatory [MISCELLANEOUS]
One family has been reported (last curated August 2013) [MISCELLANEOUS]
Caused by mutation in the pyruvate dehydrogenase kinase, isoenzyme 3 gene (PDK3, 300906.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | Xp22.11
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 300905
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3806702
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |