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:
Azotemia (HP:0002157)

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

Parent Node:
Arthritis (HP:0001369)

Parent Node:
Hyperuricemia (HP:0002149)

..Starting node
..Gout (HP:0001997)

Term ID:

1997

Name:

Gout

Synonym:

Gouty arthritis

Definition:

Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.

Comments:

Reference:

HP:0001997

Genes and Diseases:

Child Nodes:

........

Podagra (HP:0001854)

Sister Nodes:

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:0001997	HP:0001997	Gout	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	150
HP:0001997	HP:0001997	Gout	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0001997	HP:0001997	Gout	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001997	HP:0001997	Gout	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0001997	HP:0001997	Gout	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	51
HP:0001997	HP:0001997	Gout	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0001997	HP:0001997	Gout	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0001997	HP:0001997	Gout	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related		76
HP:0001997	HP:0001997	Gout	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0001997	HP:0001997	Gout	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome	HP:0040281 - Very frequent	76
HP:0001997	HP:0001997	Gout	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0001997	HP:0001997	Gout	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0001997	HP:0001997	Gout	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0001997	HP:0001997	Gout	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0001997	HP:0001997	Gout	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0001997	HP:0001997	Gout	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040281 - Very frequent	49
HP:0001997	HP:0001997	Gout	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0001997	HP:0001997	Gout	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001997	HP:0001997	Gout	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040284 - Very rare	110
HP:0001997	HP:0001997	Gout	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0001997	HP:0001997	Gout	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0001997	HP:0001997	Gout	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	109
HP:0001997	HP:0001997	Gout	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	228
HP:0001997	HP:0001997	Gout	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare	156
HP:0001997	HP:0001997	Gout	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0001997	HP:0001854	Podagra	1	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0001997	HP:0001854	Podagra	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76

Genes (19) :ANK1 APOE CLCNKB DNAJB11 EPB42 G6PC1 HNF1B HPRT1 LRP6 MUC1 PFKM PRPS1 SEC61A1 SLC12A3 SLC37A4 SLC4A1 SPTA1 SPTB UMOD

Diseases (20) :ORPHA:822 ORPHA:412 ORPHA:358 OMIM:618061 OMIM:232200 OMIM:137920 OMIM:300323 ORPHA:79233 ORPHA:510 OMIM:300322 OMIM:610947 OMIM:174000 OMIM:232800 OMIM:300661 ORPHA:411543 OMIM:617056 ORPHA:79259 OMIM:232220 OMIM:232240 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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