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

..Starting node
..Increased circulating hypoxanthine concentration (HP:0034333)

Term ID:

34333

Name:

Increased circulating hypoxanthine concentration

Synonym:

Hypoxanthine high in blood

Definition:

Elevated concentration of hypoxanthine in the blood circulation.

Comments:

Reference:

HP:0034333

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034333	HP:0034333	Increased circulating hypoxanthine concentration	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II	4

Genes (1) :MOCOS

Diseases (1) :OMIM:603592

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