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 renal morphology (HP:0012210)

Parent Node:
Nephrolithiasis (HP:0000787)

..Starting node
..Uric acid nephrolithiasis (HP:0000791)

Term ID:

791

Name:

Uric acid nephrolithiasis

Synonym:

Uric acid stones; Uric acid urolithiasis

Definition:

The presence of uric acid-containing calculi (stones) in the kidneys.

Comments:

Reference:

HP:0000791

Genes and Diseases:

Child Nodes:

........

Uric acid urolithiasis independent of gout (HP:0008651)

Sister Nodes:

Calcium nephrolithiasis (HP:0004724)

Struvite nephrolithiasis (HP:0030035)

Xanthine nephrolithiasis (HP:0000804)

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:0000791	HP:0000791	Uric acid nephrolithiasis	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040282 - Frequent	49
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0000791	HP:0000791	Uric acid nephrolithiasis	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0000791	HP:0008651	Uric acid urolithiasis independent of gout	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	56
HP:0000791	HP:0008651	Uric acid urolithiasis independent of gout	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	57

Genes (5) :APRT HPRT1 PRPS1 SLC22A12 SLC2A9

Diseases (7) :ORPHA:976 ORPHA:79233 ORPHA:411536 OMIM:300661 ORPHA:411543 ORPHA:94088 OMIM:220150

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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