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
..Elevated circulating deoxyuridine concentration (HP:0034277)

Term ID:

34277

Name:

Elevated circulating deoxyuridine concentration

Synonym:

Definition:

Concentration of 2-deoxyuridine in the blood circulation is above the normal range.

Comments:

Reference:

HP:0034277

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:0034277	HP:0034277	Elevated circulating deoxyuridine concentration	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	464
HP:0034277	HP:0034277	Elevated circulating deoxyuridine concentration	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	138

Genes (2) :POLG TYMP

Diseases (1) :OMIM:603041

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