supravalvular aortic stenosis
Information
- Disease name
- supravalvular aortic stenosis
- Disease ID
- DOID:1929
- Description
- "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart." [url:https\://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis, url:https\://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02706639 | Recruiting | Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank | May 11, 2016 | September 25, 2040 | |
| NCT02840448 | Recruiting | Impact of Elastin Mediated Vascular Stiffness on End Organs | December 2, 2016 | February 25, 2032 |
- Disase is a (Disease Ontology)
- DOID:1712
- Cross Reference ID (Disease Ontology)
- GARD:743
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q25.3
- Cross Reference ID (Disease Ontology)
- MESH:D021921
- Cross Reference ID (Disease Ontology)
- MIM:185500
- Cross Reference ID (Disease Ontology)
- NCI:C85176
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:204436002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0003499
- Exact Synonym (Disease Ontology)
- Supra-valvular aortic stenosis
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0004381
- OrphaNumber from OrphaNet (Orphanet)
- 3193