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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600882
http://purl.bioontology.org/ontology/OMIM/600882
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|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B |
| Synonyms |
HMSN IIB
CMT2B
HMSN2B
HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMSN IIB
CMT2B
HMSN2B
HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B
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|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
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| Gene Symbol |
CMT2B
PSN
RAB7
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| Scope Statement | May progress to upper limbs [MISCELLANEOUS]
Peak age of onset in second decade [MISCELLANEOUS]
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]
Phenotypic overlap with hereditary sensory and autonomic neuropathy type I (HSAN1, 162400) [MISCELLANEOUS]
Caused by mutation in the RAS-associated protein RAB7 (602298.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 3q21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 600882
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1833219
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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 |