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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621261
http://purl.bioontology.org/ontology/OMIM/621261
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, DILATED, 2M |
| Synonyms |
CMD2M
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMD2M
|
|---|---|
| prefLabel | CARDIOMYOPATHY, DILATED, 2M
|
| Gene Symbol |
NEXN
CMH20
CDM2M
CMD1CC
NELIN
|
| Scope Statement | Caused by mutation in the nexilin F-actin-binding protein gene (NEXN, 613121.0006) [MOLECULAR BASIS]
Onset of symptoms in prenatal or neonatal period (in most patients) [MISCELLANEOUS]
Death in utero may occur [MISCELLANEOUS]
Heterozygous mutation carriers have variable penetrance of dilated cardiomyopathy (CMD1CC, 613122) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p32-p31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621261
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012748
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |