Human Gene Set: HP_RENAL_FANCONI_SYNDROME


Standard name HP_RENAL_FANCONI_SYNDROME
Systematic name M41250
Brief description Renal Fanconi syndrome
Full description or abstract An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001994
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001994
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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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