Human Gene Set: HP_DISTAL_RENAL_TUBULAR_ACIDOSIS


Standard name HP_DISTAL_RENAL_TUBULAR_ACIDOSIS
Systematic name M37222
Brief description Distal renal tubular acidosis
Full description or abstract A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0008341
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External links https://hpo.jax.org/app/browse/term/HP:0008341
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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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