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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613287
http://purl.bioontology.org/ontology/OMIM/613287
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
CMT2N
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
CMT2N
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
|
| Gene Symbol |
AARS
AARS1
CMT2N
TTD8
DEE29
HDLS2
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| Scope Statement | Caused by mutation in the alanyl-tRNA synthetase gene (AARS, 601065.0001) [MOLECULAR BASIS]
Variable age at onset (range 6 to 54 years) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 16q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 613287
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2750090
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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 |