Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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

http://purl.bioontology.org/ontology/OMIM/MTHU056317

http://purl.bioontology.org/ontology/OMIM/MTHU036338

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

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10004552 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10050559 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D000082882 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/G541. RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D000082862 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10013118 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10002911 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D3-29020 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10002913 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/424.1 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10002913 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/395 ICD9CM CUI
http://purl.bioontology.org/ontology/MESH/D000082862 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10061589 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10002911 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10061589 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/I35.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10013118 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1393-3777 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10002911 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10061589 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8722008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/8722008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10002913 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10013118 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72352009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10004552 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D000082882 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10004552 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/P641. RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/Q23.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/72352009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-31834 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D000082882 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10050559 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/250978003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/250978003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10050559 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X777c RCD CUI
http://purl.bioontology.org/ontology/MESH/C562942 MESH CUI
http://purl.bioontology.org/ontology/MESH/D000082882 MESH CUI
http://id.nlm.nih.gov/mesh/D000082882 MDM LOOM
http://purl.obolibrary.org/obo/DOID_0080333 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080333 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080333 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080333 FNS-H LOOM
http://identifiers.org/omim/109730 REXO LOOM
http://identifiers.org/omim/109730 GEXO LOOM
http://identifiers.org/omim/109730 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_109730 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0024523 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0024523 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192088 NCIT LOOM