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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/611818
http://purl.bioontology.org/ontology/OMIM/611818
|
|---|---|
| Preferred Name | LONG QT SYNDROME 9 |
| Synonyms |
LQT9
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 2/9, DIGENIC
LQT2/9, DIGENIC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LQT9
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 2/9, DIGENIC
LQT2/9, DIGENIC
|
|---|---|
| prefLabel |
LONG QT SYNDROME 9
|
| Gene Symbol |
CAV3
LQT9
MPDT
RMD2
|
| notation |
611818
|
| Scope Statement |
Sudden unexplained infant death (SIDS) reported in some patients [MISCELLANEOUS]
Caused by mutation in the caveolin 3 gene (CAV3, 601253.0016) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
3p25
|
| tui |
T047
|
| cui |
C2678485
|
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