Human Phenotype Ontology 
Grandparent Node:
expandAciduria (HP:0012072)help
Parent Node:
expandOrganic aciduria (HP:0001992)help
..Starting node
..expandHyperoxaluria (HP:0003159)help
Term ID: 3159
Name: Hyperoxaluria
Synonym: High urine oxalate levels; Increased level of oxalate in urine
Definition: Increased excretion of oxalates in the urine.
Comments:
Reference: HP:0003159
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandComplex organic aciduria (HP:0008336) help
..expandDicarboxylic aciduria (HP:0003215) help
..expandElevated urinary carboxylic acid (HP:0040156) 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:0003159HP:0003159Hyperoxaluria0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0003159HP:0003159Hyperoxaluria0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040281 - Very frequent260
HP:0003159HP:0003159Hyperoxaluria0GRHPR CL E G H93804570OMIM:260000Hyperoxaluria, primary, type II.70
HP:0003159HP:0003159Hyperoxaluria0GRHPR CL E G H93804570ORPHA:93599Primary hyperoxaluria type 2HP:0040281 - Very frequent70
HP:0003159HP:0003159Hyperoxaluria0HOGA1 CL E G H11281725155OMIM:613616HYPEROXALURIA, PRIMARY, TYPE III; HP383
HP:0003159HP:0003159Hyperoxaluria0HOGA1 CL E G H11281725155ORPHA:93600Primary hyperoxaluria type 3HP:0040281 - Very frequent83
HP:0003159HP:0003159Hyperoxaluria0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0003159HP:0003159Hyperoxaluria0SLC26A1 CL E G H1086110993OMIM:167030Nephrolithiasis, calcium oxalate.24


Genes (5) :AGXT GRHPR HOGA1 PEX1 SLC26A1

Diseases (8) :OMIM:259900 ORPHA:93598 OMIM:260000 ORPHA:93599 OMIM:613616 ORPHA:93600 OMIM:601539 OMIM:167030
 

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