Human Phenotype Ontology 
Grandparent Node:
expandAbnormal enzyme/coenzyme activity (HP:0012379)help
Parent Node:
expandAbnormal hypoxanthine-guanine phosphoribosyltransferase level (HP:0031821)help
..Starting node
..expandReduced hypoxanthine-guanine phosphoribosyltransferase level (HP:0031823)help
Term ID: 31823
Name: Reduced hypoxanthine-guanine phosphoribosyltransferase level
Synonym: Reduced 6-hydroxypurine phosphoribosyltransferase level; Reduced 6-mercaptopurine phosphoribosyltransferase level; Reduced GMP pyrophosphorylase level
Definition: Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
Comments:
Reference: HP:0031823
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated hypoxanthine-guanine phosphoribosyltransferase level (HP:0031822) 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:0031823HP:0031823Reduced hypoxanthine-guanine phosphoribosyltransferase level0 CL E G H


Genes (0) :

Diseases (0) :
 

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