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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618655
http://purl.bioontology.org/ontology/OMIM/618655
|
|---|---|
| Preferred Name | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT |
| Synonyms |
MPD6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MPD6
|
|---|---|
| prefLabel | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT
|
| Gene Symbol |
MPD6
CMD1AA
CMYO8
ACTN2
CMH23
|
| Scope Statement | Caused by mutation in the actinin, alpha-2 gene (ACTN2, 102573.0010) [MOLECULAR BASIS]
Adult onset (range 38 to 63 years) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q42-q43
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618655
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5203349
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |