Human Gene Set: HP_RENAL_TUBULAR_ACIDOSIS


Standard name HP_RENAL_TUBULAR_ACIDOSIS
Systematic name M35537
Brief description Renal tubular acidosis
Full description or abstract Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001947
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001947
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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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