Human Gene Set: HP_ABNORMAL_URINARY_PURINE_LEVEL


Standard name HP_ABNORMAL_URINARY_PURINE_LEVEL
Systematic name M48887
Brief description Abnormal urinary purine level
Full description or abstract Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033161
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External links https://hpo.jax.org/app/browse/term/HP:0033161
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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