Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating nucleobase concentration (HP:0010932)

Parent Node:
Abnormal circulating purine concentration (HP:0004352)

..Starting node
..Increased circulating purine concentration (HP:0004368)

Term ID:

4368

Name:

Increased circulating purine concentration

Synonym:

Increased purine level; Increased purine levels

Definition:

Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.

Comments:

Reference:

HP:0004368

Genes and Diseases:

Child Nodes:

........

Hyperuricemia (HP:0002149)

................... HP:0001997 Gout

........

Excessive purine production (HP:0003142)

Sister Nodes:

Decreased circulating purine concentration (HP:0004369)

Hyperxanthinemia (HP:0010933)

Increased urinary hypoxanthine (HP:0011814)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004368	HP:0004368	Increased circulating purine concentration	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	4
HP:0004368	HP:0004368	Increased circulating purine concentration	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	52
HP:0004368	HP:0004368	Increased circulating purine concentration	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	79
HP:0004368	HP:0010933	Hyperxanthinemia	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	4
HP:0004368	HP:0034333	Increased circulating hypoxanthine concentration	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	4
HP:0004368	HP:0033340	Increased circulating guanosine concentration	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	52
HP:0004368	HP:0033339	Increased circulating inosine concentration	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	52
HP:0004368	HP:0010933	Hyperxanthinemia	1	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	79

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.

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