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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612954
http://purl.bioontology.org/ontology/OMIM/612954
|
|---|---|
| Preferred Name | MYOPATHY, MYOFIBRILLAR, 6 |
| Synonyms |
MFM6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MFM6
|
|---|---|
| prefLabel | MYOPATHY, MYOFIBRILLAR, 6
|
| Gene Symbol |
HMND15
MFM6
CMT2JJ
CMD1HH
BAG3
|
| Scope Statement | Death in the first decade often occurs [MISCELLANEOUS]
Caused by mutation in the BCL2-associated athanogene 3 gene (BAG3, 603883.0001) [MOLECULAR BASIS]
Onset in late childhood or early teens [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q25.2-q26.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612954
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2751831
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |