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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613122
http://purl.bioontology.org/ontology/OMIM/613122
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, DILATED, 1CC |
| Synonyms |
CMD1CC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMD1CC
|
|---|---|
| prefLabel | CARDIOMYOPATHY, DILATED, 1CC
|
| Gene Symbol |
NEXN
CMH20
CDM2M
CMD1CC
NELIN
|
| Scope Statement | Average age of onset 50.8 +/- 9.0 years [MISCELLANEOUS]
Some patients require cardiac transplantation [MISCELLANEOUS]
Caused by mutation in the nexilin F-actin-binding protein (NEXN, 613121.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 1p32-p31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613122
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2751084
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |