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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608634
http://purl.bioontology.org/ontology/OMIM/608634
|
|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3 |
| Synonyms |
HMND3
HMN IIB
HMN2B
NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB
NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB
DHMN2B
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMND3
HMN IIB
HMN2B
NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB
NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB
DHMN2B
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|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3
|
| Gene Symbol |
HSPB1
HMND3
HSP27
CMT2F
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| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the heat-shock 27-kD protein 1 gene (HSPB1, 602195.0001) [MOLECULAR BASIS]
See also distal HMN2A (158590) [MISCELLANEOUS]
Autosomal recessive inheritance has been reported in 1 family [MISCELLANEOUS]
Allelic disorder to Charcot-Marie-Tooth disease 2F (CMT2F, 606595) [MISCELLANEOUS]
Onset usually in adulthood although childhood onset has been reported [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 7q11.23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 608634
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2608087
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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 |