Rare diseases · Sign or symptom
Abnormal erythrocyte enzyme concentration or activity
HP:0030272
What it means
An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.
Rare diseases that can present with this8
Very common80–99%
4The 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: Abnormal erythrocyte enzyme level
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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.