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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | AORTIC VALVE DISEASE 2 | |
| Synonyms |
AOVD2 AORTIC VALVE STENOSIS BICUSPID AORTIC VALVE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/614823 |
|
| altLabel |
AOVD2 AORTIC VALVE STENOSIS BICUSPID AORTIC VALVE
|
|
| cui |
C0003507 C3542024 C0149630
|
|
| Gene Locus |
15q21-q22
|
|
| Gene Symbol |
SMAD6 MADH6 AOVD2
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU034611 http://purl.bioontology.org/ontology/OMIM/MTHU040397 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
614823
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
AORTIC VALVE DISEASE 2
|
|
| Scope Statement |
Caused by mutation in the mothers against decapentaplegic, Drosophila, homolog of, 6 gene (SMAD6, 602931.0001) [MOLECULAR BASIS]
|
|
| tui |
T046 T047 T019
|
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