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 pyrimidine concentration (HP:0004353)

..Starting node
..Uraciluria (HP:0012127)

Term ID:

12127

Name:

Uraciluria

Synonym:

High urine uracil levels

Definition:

Increased concentration of uracil in the urine.

Comments:

Reference:

HP:0012127

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)

obsolete Increased urinary orotic acid concentration (HP:0010928)

Reduced dihydropyrimidine dehydrogenase level (HP:0003654)

Reduced orotidine 5-prime phosphate decarboxylase level (HP:0003267)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012127	HP:0012127	Uraciluria	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0012127	HP:0012127	Uraciluria	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040281 - Very frequent	144
HP:0012127	HP:0012127	Uraciluria	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44

Genes (2) :DPYD DPYS

Diseases (3) :OMIM:274270 ORPHA:1675 OMIM:222748

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