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 urine catecholamine level (HP:0011281)

Parent Node:
Elevated urinary catecholamines (HP:0011976)

..Starting node
..Elevated urinary norepinephrine (HP:0003345)

Term ID:

3345

Name:

Elevated urinary norepinephrine

Synonym:

Definition:

An increased concentration of noradrenaline in the urine.

Comments:

Reference:

HP:0003345

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated urinary dopamine (HP:0011979)

Elevated urinary epinephrine (HP:0003639)

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:0003345	HP:0003345	Elevated urinary norepinephrine	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0003345	HP:0003345	Elevated urinary norepinephrine	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490

Genes (18) :DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SLC6A2 TMEM127 VHL

Diseases (5) :ORPHA:29072 ORPHA:276621 OMIM:171300 OMIM:171400 OMIM:604715

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