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
..Elevated diastolic blood pressure (HP:0005117)

Term ID:

5117

Name:

Elevated diastolic blood pressure

Synonym:

Elevated diastolic BP

Definition:

Abnormal increase in diastolic blood pressure.

Comments:

Reference:

HP:0005117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated mean arterial pressure (HP:0004972)

Elevated systolic blood pressure (HP:0004421)

Episodic hypertension (HP:0000875)

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:0005117	HP:0005117	Elevated diastolic blood pressure	0	ADD1 CL E G H	118	243	OMIM:145500	Hypertension, essential	.	1
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	AGT CL E G H	183	333	OMIM:145500	Hypertension, essential	.	48
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	AGTR1 CL E G H	185	336	OMIM:145500	Hypertension, essential	.	33
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	5
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	CYP3A5 CL E G H	1577	2638	OMIM:145500	Hypertension, essential	.	2
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	ECE1 CL E G H	1889	3146	OMIM:145500	Hypertension, essential	.	13
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	11
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	GNB3 CL E G H	2784	4400	OMIM:145500	Hypertension, essential	.	5
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	KCNMB1 CL E G H	3779	6285	OMIM:608622	HYPERTENSION, DIASTOLIC, RESISTANCE TO		1
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	NOS3 CL E G H	4846	7876	OMIM:145500	Hypertension, essential	.	8
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	PTGIS CL E G H	5740	9603	OMIM:145500	Hypertension, essential	.	3
HP:0005117	HP:0005117	Elevated diastolic blood pressure	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent	2

Genes (12) :ADD1 AGT AGTR1 CORIN CYP3A5 ECE1 FLT1 GNB3 KCNMB1 NOS3 PTGIS STOX1

Diseases (3) :OMIM:145500 ORPHA:275555 OMIM:608622

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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