Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal physiology (HP:0012211)help
Parent Node:
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Abnormal renal tubular resorption (HP:0011038)help
..Starting node
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Impaired renal ltubular reabsorption of chloride (HP:0005579)help
Term ID: 5579
Name: Impaired renal ltubular reabsorption of chloride
Synonym: Impaired reabsorption of Cl; Impaired reabsorption of Cl-
Definition: Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.
Comments:
Reference: HP:0005579
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandImpaired renal concentrating ability (HP:0004727) help
..expandIncreased renal tubular phosphate reabsorption (HP:0005571) help
..expandRenal Fanconi syndrome (HP:0001994) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005579HP:0005579Impaired renal ltubular reabsorption of chloride0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27


Genes (1) :CLCNKB

Diseases (1) :OMIM:607364
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.