Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal circulating nucleobase concentration (HP:0010932)help
..Starting node
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Abnormal circulating purine concentration (HP:0004352)help
Term ID: 4352
Name: Abnormal circulating purine concentration
Synonym: Abnormal circulating purine level
Definition: Any deviation from the normal concentration of a purine in the blood circulation.
Comments:
Reference: HP:0004352
Genes and Diseases:
 
       Child Nodes:
........expandIncreased purine levels (HP:0004368) help
................... HP:0002149 Hyperuricemia
................... HP:0003142 Excessive purine production
........expandDecreased purine levels (HP:0004369) help
................... HP:0003537 Hypouricemia
........expandAbnormality of xanthine metabolism (HP:0010933) help
................... HP:0003534 Reduced xanthine dehydrogenase activity
................... HP:0010934 Xanthinuria
........expandIncreased urinary hypoxanthine (HP:0011814) help

 Sister Nodes: 
..expandAbnormal circulating pyrimidine concentration (HP:0004353) help
..expandIncreased phosphoribosylpyrophosphate synthetase level (HP:0003240) 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:0004352HP:0004352Abnormal circulating purine concentration0MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II4
HP:0004352HP:0004352Abnormal circulating purine concentration0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004352HP:0004352Abnormal circulating purine concentration0XDH CL E G H749812805OMIM:278300Xanthinuria, type I79
HP:0004352HP:0004369Decreased circulating purine concentration1 CL E G H
HP:0004352HP:0004368Increased circulating purine concentration1MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II4
HP:0004352HP:0004368Increased circulating purine concentration1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004352HP:0004368Increased circulating purine concentration1XDH CL E G H749812805OMIM:278300Xanthinuria, type I79
HP:0004352HP:0010933Hyperxanthinemia2MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II4
HP:0004352HP:0034333Increased circulating hypoxanthine concentration2MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II4
HP:0004352HP:0033339Increased circulating inosine concentration2PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004352HP:0033340Increased circulating guanosine concentration2PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004352HP:0010933Hyperxanthinemia2XDH CL E G H749812805OMIM:278300Xanthinuria, type I79


Genes (3) :MOCOS PNP XDH

Diseases (3) :OMIM:603592 OMIM:613179 OMIM:278300
 

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