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 uracil concentration (HP:0033139)

Term ID:

33139

Name:

Elevated circulating uracil concentration

Synonym:

Definition:

Concentration of uracil in the blood circulation is above the normal range.

Comments:

Reference:

HP:0033139

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:0033139	HP:0033139	Elevated circulating uracil concentration	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	44
HP:0033139	HP:0033139	Elevated circulating uracil concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	369

Genes (2) :DPYS OTC

Diseases (2) :OMIM:222748 OMIM:311250

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