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
..Hyperxanthinemia (HP:0010933)

Term ID:

10933

Name:

Hyperxanthinemia

Synonym:

Increased circulating xanthine concentration

Definition:

An increased level of xanthine in the blood circulation.

Comments:

Reference:

HP:0010933

Genes and Diseases:

Child Nodes:

........

Reduced xanthine dehydrogenase activity (HP:0003534)

........

Xanthinuria (HP:0010934)

Sister Nodes:

Decreased circulating purine concentration (HP:0004369)

Increased circulating purine concentration (HP:0004368)

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:0010933	HP:0010933	Hyperxanthinemia	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	4
HP:0010933	HP:0010933	Hyperxanthinemia	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	79

Genes (2) :MOCOS XDH

Diseases (2) :OMIM:603592 OMIM:278300

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