Rare diseases · Sign or symptom
Pulmonary artery atresia
HP:0004935
What it means
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation.
Rare diseases that can present with this13
Sometimes5–29%
9- 14q24.1q24.3microdeletion syndrome
- Aminopterin/methotrexate embryofetopathy
- Common arterial trunk
- Congenitally corrected transposition of the great arteries
- Congenital tracheal stenosis
- Double outlet right ventricle
- FADD-related immunodeficiency
- Mosaic trisomy 1 syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Atresia of the pulmonary artery · Pulmonary atresia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.