ventricular septal defect 3
MONDO:0013749Mondo
Findings
No curated finding names ventricular septal defect 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013749), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
- Ventricular septal defectHPOHP:0001629
- 5 of 5 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
- Pulmonary artery stenosisHPOHP:0004415
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
3 names
Resolves to: ventricular septal defect 3
- Also called
- NKX2-5 ventricular septal defect (disease)ventricular septal defect (disease) caused by mutation in NKX2-5ventricular septal defect type 3