Human Gene Set: HP_INCREASED_URINARY_PORPHOBILINOGEN


Standard name HP_INCREASED_URINARY_PORPHOBILINOGEN
Systematic name M46228
Brief description Increased urinary porphobilinogen
Full description or abstract The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199, PMID:11861450]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012217
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012217
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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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