Aortic Valve Disease 1

Preferred Label : Aortic Valve Disease 1;

NCIt synonyms : AOVD1;

NCIt definition : An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.;

Details

Origin ID

C192088;

UMLS CUI

C3887892;

Currated CISMeF NLP mapping
- Aortic Valve Disease 1 [MeSH concept]
- Aortic valve disease 1 [OMIM Phenotype]
- aortic valve disease 1 [DO Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aortic valve disease 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- NOTCH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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