Human Gene Set: HP_PROXIMAL_TUBULOPATHY


Standard name HP_PROXIMAL_TUBULOPATHY
Systematic name M34546
Brief description Proximal tubulopathy
Full description or abstract Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000114
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000114
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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
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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