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 systemic blood pressure (HP:0030972)

Parent Node:
Hypertension (HP:0000822)

..Starting node
..Episodic hypertension (HP:0000875)

Term ID:

875

Name:

Episodic hypertension

Synonym:

Intermittent high blood pressure

Definition:

Comments:

Reference:

HP:0000875

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated diastolic blood pressure (HP:0005117)

Elevated mean arterial pressure (HP:0004972)

Elevated systolic blood pressure (HP:0004421)

Hypertension associated with pheochromocytoma (HP:0002640)

Hypertensive crisis (HP:0100735)

Portal hypertension (HP:0001409)

Renovascular hypertension (HP:0100817)

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:0000875	HP:0000875	Episodic hypertension	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0000875	HP:0000875	Episodic hypertension	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000875	HP:0000875	Episodic hypertension	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0000875	HP:0000875	Episodic hypertension	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0000875	HP:0000875	Episodic hypertension	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0000875	HP:0000875	Episodic hypertension	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0000875	HP:0000875	Episodic hypertension	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0000875	HP:0000875	Episodic hypertension	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490

Genes (8) :KIF1B LBX1 MAX RET SDHB SDHD TMEM127 VHL

Diseases (2) :OMIM:171300 OMIM:619483

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