Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the uvula
HP:0010293
What it means
Underdevelopment or absence of the uvula.
Rare diseases that can present with this3
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: Aplasia/hypoplasia of palatine uvula
Aplasia/Hypoplasia of the uvula
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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.