Rare diseases · Sign or symptom
Abnormal aortic valve morphology
HP:0001646
What it means
Any abnormality of the aortic valve.
Rare diseases that can present with this20
Common30–79%
9Sometimes5–29%
10- 22q11.2deletion syndrome
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Autosomal recessive multiple pterygium syndrome
- Coffin-Lowry syndrome
- Fanconi anemia
- Lung agenesis-heart defect-thumb anomalies syndrome
- Mucolipidosis type II
- Mucopolysaccharidosis type 1
and 2 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: Abnormality of the aortic valve
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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.