aortic valve disease 3
MONDO:0032783Mondo
Findings
No curated finding names aortic valve disease 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic root aneurysmHPOHP:0002616
- 11 of 12 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 10 of 15 reported patients
- Aortic valve stenosisHPOHP:0001650
- 1 of 15 reported patients
- Ascending aortic dissectionHPOHP:0004933
- 1 of 15 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 15 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ROBO4HGNC:17985
- Strong · G2P · Autosomal dominant · 2019
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
Where it sits
- A kind of