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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621237
http://purl.bioontology.org/ontology/OMIM/621237
|
|---|---|
| Preferred Name | CARDIOMYOPATHY, DILATED, 2L |
| Synonyms |
CMD2L
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMD2L
|
|---|---|
| prefLabel | CARDIOMYOPATHY, DILATED, 2L
|
| Gene Symbol |
ZASP
CMH24
MFM4
LVNC3
CMD2L
LDB3
CYPHER
CMD1C
KIAA01613
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|
| Scope Statement | Caused by mutation in the LIM domain-binding 3 gene (LDB3, 605906.0011) [MOLECULAR BASIS]
Presents in infancy to early childhood [MISCELLANEOUS]
Death in infancy or early childhood may occur [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q22.2-q23.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621237
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012739
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |