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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620894
http://purl.bioontology.org/ontology/OMIM/620894
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, DILATED, 2K |
| Synonyms |
CMD2K
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMD2K
|
|---|---|
| prefLabel | CARDIOMYOPATHY, DILATED, 2K
|
| Gene Symbol |
GCOM1
MYZAP
GUP
CMD2K
|
| Scope Statement | Caused by mutation in the myocardial zonula adherens protein gene (MYZAP, 614071.0003) [MOLECULAR BASIS]
Some affected individuals may be subclinical [MISCELLANEOUS]
Age at diagnosis ranges from second to fourth decade of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q21.3-q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620894
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5935636
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |