Human Gene Set: HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION


Standard name HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION
Systematic name M41579
Brief description Abnormal circulating proteinogenic amino acid concentration
Full description or abstract An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0033107
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External links https://hpo.jax.org/app/browse/term/HP:0033107
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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 2026.1.Hs: Updated to HPO Release 2026-01-08.


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