Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/616117
http://purl.bioontology.org/ontology/OMIM/616117
|
|---|---|
| Preferred Name | CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY |
| Synonyms |
CCDD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CCDD
|
|---|---|
| prefLabel | CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
|
| Gene Symbol |
CCDD
TNNI3K
|
| notation | 616117
|
| Scope Statement | Dilated cardiomyopathy can occur as early as second decade of life [MISCELLANEOUS]
Onset of arrhythmias in first decade of life [MISCELLANEOUS]
Early sudden death may occur (1.5 years, 16 years, and 13 years reported in some patients) [MISCELLANEOUS]
Caused by mutation in the TNNI3-interacting kinase gene (TNNI3K, 613932.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1p31.1
|
| tui | T047
|
| cui | C4015285
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |