Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expandAbnormal enzyme/coenzyme activity (HP:0012379)help
..Starting node
..expandAbnormal hypoxanthine-guanine phosphoribosyltransferase level (HP:0031821)help
Term ID: 31821
Name: Abnormal hypoxanthine-guanine phosphoribosyltransferase level
Synonym: Abnormal 6-hydroxypurine phosphoribosyltransferase level; Abnormal GMP pyrophosphorylase level; Abnormal GPRT level
Definition: Altered 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:0031821
Genes and Diseases:
 
       Child Nodes:
........expandElevated hypoxanthine-guanine phosphoribosyltransferase level (HP:0031822) help
........expandReduced hypoxanthine-guanine phosphoribosyltransferase level (HP:0031823) help

 Sister Nodes: 
..expandAbnormal aldolase level (HP:0012400) help
..expandAbnormal biotinidase level (HP:0410144) help
..expandAbnormal erythrocyte enzyme level (HP:0030272) help
..expandAbnormal lactate dehydrogenase level (HP:0045040) help
..expandAbnormal superoxide dismutase level (HP:0031835) help
..expandAbnormal uridine diphosphate glucose-4-epimerase level (HP:0410192) help
..expandAbnormality of alkaline phosphatase level (HP:0004379) help
..expandDecreased circulating lipoprotein lipase concentration (HP:0031209) help
..expandDecreased lecithin cholesterol acyl transferase level (HP:0025433) help
..expandDecreased small intestinal mucosa lactase level (HP:0025130) help
..expandElevated gamma-glutamyltransferase level (HP:0030948) help
..expandobsolete Abnormal serum tryptase concentration (HP:0031900) help
..expandPlatelet-activating factor acetylhydrolase deficiency (HP:0040175) help
..expandReduced carnitine O-palmitoyltransferase level (HP:0012380) help
..expandReduced catalase level (HP:0012517) help
..expandReduced lysosomal acid lipase activity (HP:0031205) 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:0031821HP:0031821Abnormal hypoxanthine-guanine phosphoribosyltransferase level0 CL E G H
HP:0031821HP:0031822Elevated hypoxanthine-guanine phosphoribosyltransferase level1 CL E G H
HP:0031821HP:0031823Reduced hypoxanthine-guanine phosphoribosyltransferase level1 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.