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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621094
http://purl.bioontology.org/ontology/OMIM/621094
|
|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15 |
| Synonyms |
HMND15
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMND15
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15
|
|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15
|
| Gene Symbol |
HMND15
MFM6
CMT2JJ
CMD1HH
BAG3
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
One Spanish family has been reported (last curated February 2025) [MISCELLANEOUS]
Caused by mutation in the BCL2-associated athanogene 3 (BAG3, 603883.0013) [MOLECULAR BASIS]
Adult onset (40's to 50's) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 10q25.2-q26.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 621094
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975628
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| 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 |