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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615490
http://purl.bioontology.org/ontology/OMIM/615490
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R |
| Synonyms |
CMT2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT2R
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
|
| Gene Symbol |
TRIM2
CMT2R
KIAA0517
|
| Scope Statement | Two unrelated patients have been reported (last curated July 2015) [MISCELLANEOUS]
Onset in early childhood [MISCELLANEOUS]
Patient B had a more severe phenotype [MISCELLANEOUS]
Caused by mutation in the tripartite motif-containing protein 2 gene (TRIM2, 614141.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 4q31.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 615490
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809655
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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 |