Online Mendelian Inheritance in Man

Last uploaded: August 27, 2019
Preferred Name

AORTIC VALVE DISEASE 1

Synonyms

AOVD1

ID

http://purl.bioontology.org/ontology/OMIM/109730

altLabel

AOVD1

BAV

AORTIC STENOSIS, CALCIFIC

BICUSPID AORTIC VALVE

AORTIC VALVE, BICUSPID

AORTIC VALVE, CALCIFICATION OF

AORTIC VALVE DISEASE

cui

C3887892

C1260873

C0149630

C0428791

Gene Locus

9q34.3

Gene Symbol

AOS5

AOVD1

TAN1

NOTCH1

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

109730

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

AORTIC VALVE DISEASE 1

tui

T019

T047

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http://purl.bioontology.org/ontology/SCTSPA/8722008 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD9CM/424.1 ICD9CM CUI
http://purl.bioontology.org/ontology/MESH/C563178 MESH CUI
http://purl.bioontology.org/ontology/MESH/C563178 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002913 MEDDRA CUI
http://purl.obolibrary.org/obo/DOID_0080333 NIFSTD LOOM
http://purl.bioontology.org/ontology/CSP/1393-3777 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10050559 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10002911 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10013118 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/250978003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D3-29020 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/395 ICD9CM CUI
http://purl.bioontology.org/ontology/MESH/C562942 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-31834 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/250978003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/I35.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10061589 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10004552 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72352009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10013118 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/P641. RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10002913 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10050559 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/G541. RCD CUI
http://purl.bioontology.org/ontology/MESH/C562388 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/72352009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8722008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X777c RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10002911 MDRFRE CUI
http://purl.obolibrary.org/obo/MONDO_0024523 MONDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10061589 MDRFRE CUI
http://identifiers.org/omim/109730 RETO LOOM
http://identifiers.org/omim/109730 GEXO LOOM
http://identifiers.org/omim/109730 REXO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q23.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10004552 MEDDRA CUI