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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/620462
http://purl.bioontology.org/ontology/OMIM/620462
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, DILATED, 2I |
| Synonyms |
CMD2I
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMD2I
|
|---|---|
| prefLabel | CARDIOMYOPATHY, DILATED, 2I
|
| Gene Symbol |
CAP2
CMD2I
|
| notation | 620462
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Patient may require heart transplantation [MISCELLANEOUS]
Caused by mutation in the cyclase-associated actin cytoskeleton regulatory protein-2 gene (CAP2, 618385.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 6p22.3
|
| tui | T047
|
| cui | C5830685
|
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