Human Gene Set: HP_RENAL_TUBULAR_DYSFUNCTION


Standard name HP_RENAL_TUBULAR_DYSFUNCTION
Systematic name M34551
Brief description Renal tubular dysfunction
Full description or abstract Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000124
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000124
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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