Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating nucleobase concentration (HP:0010932)

..Starting node
..Abnormal circulating pyrimidine concentration (HP:0004353)

Term ID:

4353

Name:

Abnormal circulating pyrimidine concentration

Synonym:

Definition:

Any deviation from the normal concentration of a pyrimidine in the blood circulation.

Comments:

Reference:

HP:0004353

Genes and Diseases:

Child Nodes:

........

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

........

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

........

Reduced dihydropyrimidine dehydrogenase activity (HP:0003654)

........

Abnormality of orotic acid metabolism (HP:0010928)

................... HP:0003218 Oroticaciduria
................... HP:0003526 Orotic acid crystalluria

........

Uraciluria (HP:0012127)

Sister Nodes:

Abnormal circulating purine concentration (HP:0004352)

Increased phosphoribosylpyrophosphate synthetase level (HP:0003240)

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:0004353	HP:0004353	Abnormal circulating pyrimidine concentration	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	44
HP:0004353	HP:0004353	Abnormal circulating pyrimidine concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	369
HP:0004353	HP:0004353	Abnormal circulating pyrimidine concentration	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	464
HP:0004353	HP:0004353	Abnormal circulating pyrimidine concentration	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	138
HP:0004353	HP:0033139	Elevated circulating uracil concentration	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	44
HP:0004353	HP:0033139	Elevated circulating uracil concentration	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	369
HP:0004353	HP:0034277	Elevated circulating deoxyuridine concentration	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	464
HP:0004353	HP:0034276	Elevated circulating thymidine concentration	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	464
HP:0004353	HP:0034277	Elevated circulating deoxyuridine concentration	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	138
HP:0004353	HP:0034276	Elevated circulating thymidine concentration	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	138

Genes (4) :DPYS OTC POLG TYMP

Diseases (3) :OMIM:222748 OMIM:311250 OMIM:603041

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

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