Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 renin-angiotensin system (HP:0000847)

Parent Node:
Abnormal circulating renin (HP:0040084)

..Starting node
..Decreased circulating renin level (HP:0003351)

Term ID:

3351

Name:

Decreased circulating renin level

Synonym:

Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity

Definition:

An decreased level of renin in the blood.

Comments:

Reference:

HP:0003351

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating renin level (HP:0000848)

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:0003351	HP:0003351	Decreased circulating renin level	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0003351	HP:0003351	Decreased circulating renin level	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0003351	HP:0003351	Decreased circulating renin level	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003351	HP:0003351	Decreased circulating renin level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0003351	HP:0003351	Decreased circulating renin level	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0003351	HP:0003351	Decreased circulating renin level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0003351	HP:0003351	Decreased circulating renin level	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040281 - Very frequent	14
HP:0003351	HP:0003351	Decreased circulating renin level	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0003351	HP:0003351	Decreased circulating renin level	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0003351	HP:0003351	Decreased circulating renin level	0	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy	.	109
HP:0003351	HP:0003351	Decreased circulating renin level	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0003351	HP:0003351	Decreased circulating renin level	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.	57

Genes (9) :AVPR2 CACNA1D CYP11B1 CYP17A1 HSD11B2 KCNJ5 NR3C2 SCNN1B SCNN1G

Diseases (12) :OMIM:300539 OMIM:615474 OMIM:202010 ORPHA:90795 OMIM:103900 ORPHA:90793 ORPHA:320 OMIM:218030 OMIM:613677 OMIM:605115 OMIM:177200 OMIM:618114

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen