Rare diseases · Sign or symptom

Abnormal circulating nucleobase concentration

HP:0010932

What it means

An abnormality of a nucleobase metabolic process.

This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.

Part of the broader category

Also called: Abnormal nucleoside levels

Abnormal circulating nucleobase…

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This 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.