Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the kidney (HP:0000077)help
Grandparent Node:
expandAbnormality of the urinary system physiology (HP:0011277)help
Parent Node:
expandAbnormal renal physiology (HP:0012211)help
..Starting node
..expandImpaired urinary acidification (HP:0031033)help
Term ID: 31033
Name: Impaired urinary acidification
Synonym: Renal acidification defect
Definition: The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.
Comments:
Reference: HP:0031033
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal glomerular filtration rate (HP:0012212) help
..expandAbnormal renal tubular resorption (HP:0011038) help
..expandAbnormality of renal excretion (HP:0011036) help
..expandElevated alkaline phosphatase of renal origin (HP:0010680) help
..expandHematuria (HP:0000790) help
..expandHemolytic-uremic syndrome (HP:0005575) help
..expandIsothenuria (HP:0030036) help
..expandLow alkaline phosphatase of renal origin (HP:0010685) help
..expandNephritis (HP:0000123) help
..expandNephropathy (HP:0000112) help
..expandNephrotic syndrome (HP:0000100) help
..expandRenal insufficiency (HP:0000083) help
..expandRenal tubular dysfunction (HP:0000124) help
..expandRenovascular hypertension (HP:0100817) 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:0031033HP:0031033Impaired urinary acidification0SLC4A1 CL E G H652111027OMIM:179800Renal tubular acidosis, distal, autosomal dominant109


Genes (1) :SLC4A1

Diseases (1) :OMIM:179800
 

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