Preferred Name |
AORTIC VALVE DISEASE 1 |
|
Synonyms |
AOVD1 |
|
ID |
http://purl.bioontology.org/ontology/OMIM/109730 |
|
altLabel |
AOVD1 AOVD AORTIC VALVE DISEASE BICUSPID AORTIC VALVE AORTIC VALVE, CALCIFICATION OF BAV AORTIC STENOSIS, CALCIFIC AORTIC VALVE, BICUSPID |
|
cui |
C1260873 C0149630 C0428791 C3887892 |
|
Gene Locus |
9q34.3 |
|
Gene Symbol |
NOTCH1 AOVD1 AOS5 TAN1 |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU035884 http://purl.bioontology.org/ontology/OMIM/MTHU036018 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU037463 http://purl.bioontology.org/ontology/OMIM/MTHU001441 http://purl.bioontology.org/ontology/OMIM/MTHU063233 http://purl.bioontology.org/ontology/OMIM/MTHU013906 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
109730 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
AORTIC VALVE DISEASE 1 |
|
Scope Statement |
Caused by mutation in the notch receptor 1 gene (NOTCH1, 190198.0001) [MOLECULAR BASIS] |
|
tui |
T047 T019 |