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:
Abnormal circulating purine concentration (HP:0004352)

Parent Node:
Azotemia (HP:0002157)

Parent Node:
Increased circulating purine concentration (HP:0004368)

..Starting node
..Hyperuricemia (HP:0002149)

Term ID:

2149

Name:

Hyperuricemia

Synonym:

High blood uric acid level; Hyperuricaemia

Definition:

An abnormally high level of uric acid in the blood.

Comments:

Reference:

HP:0002149

Genes and Diseases:

Child Nodes:

........

Gout (HP:0001997)

................... HP:0001854 Podagra

Sister Nodes:

Excessive purine production (HP:0003142)

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:0002149	HP:0002149	Hyperuricemia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent	91
HP:0002149	HP:0002149	Hyperuricemia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002149	HP:0002149	Hyperuricemia	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0002149	HP:0002149	Hyperuricemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002149	HP:0002149	Hyperuricemia	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0002149	HP:0002149	Hyperuricemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0002149	HP:0002149	Hyperuricemia	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002149	HP:0002149	Hyperuricemia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0002149	HP:0002149	Hyperuricemia	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0002149	HP:0002149	Hyperuricemia	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0002149	HP:0002149	Hyperuricemia	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002149	HP:0002149	Hyperuricemia	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0002149	HP:0002149	Hyperuricemia	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040282 - Frequent	76
HP:0002149	HP:0002149	Hyperuricemia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0002149	HP:0002149	Hyperuricemia	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent	76
HP:0002149	HP:0002149	Hyperuricemia	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	56
HP:0002149	HP:0002149	Hyperuricemia	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	77
HP:0002149	HP:0002149	Hyperuricemia	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0002149	HP:0002149	Hyperuricemia	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040282 - Frequent	11
HP:0002149	HP:0002149	Hyperuricemia	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040282 - Frequent	64
HP:0002149	HP:0002149	Hyperuricemia	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0002149	HP:0002149	Hyperuricemia	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0002149	HP:0002149	Hyperuricemia	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0002149	HP:0002149	Hyperuricemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0002149	HP:0002149	Hyperuricemia	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0002149	HP:0002149	Hyperuricemia	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0002149	HP:0002149	Hyperuricemia	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0002149	HP:0002149	Hyperuricemia	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0002149	HP:0002149	Hyperuricemia	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0002149	HP:0002149	Hyperuricemia	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0002149	HP:0002149	Hyperuricemia	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0002149	HP:0002149	Hyperuricemia	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0002149	HP:0002149	Hyperuricemia	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002149	HP:0002149	Hyperuricemia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0002149	HP:0002149	Hyperuricemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0002149	HP:0002149	Hyperuricemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0002149	HP:0002149	Hyperuricemia	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0002149	HP:0002149	Hyperuricemia	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0002149	HP:0002149	Hyperuricemia	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0002149	HP:0002149	Hyperuricemia	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66

Genes (27) :ACAT1 ALDOB ALMS1 CLDN16 FBP1 G6PC1 HMGCL HNF1B HPRT1 LMAN1 MCFD2 MUC1 MYC PFKM PHKA2 PHKB PPARG PRPS1 PYGM REN SARS2 SEC61A1 SH2B1 SLC37A4 TNFRSF11A TNFRSF11B UMOD

Diseases (38) :ORPHA:134 OMIM:229600 ORPHA:469 OMIM:203800 OMIM:248250 ORPHA:348 OMIM:232200 ORPHA:20 OMIM:246450 ORPHA:93111 OMIM:137920 OMIM:300323 ORPHA:79233 OMIM:300322 ORPHA:510 ORPHA:35909 OMIM:174000 ORPHA:543 ORPHA:371 OMIM:232800 OMIM:306000 OMIM:261750 OMIM:604367 ORPHA:79083 ORPHA:411536 OMIM:300661 ORPHA:411543 OMIM:232600 OMIM:613092 OMIM:613845 OMIM:617056 ORPHA:261222 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:2801 OMIM:239000 OMIM:162000

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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