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
..Hypertensive crisis (HP:0100735)

Term ID:

100735

Name:

Hypertensive crisis

Synonym:

Definition:

Comments:

Reference:

HP:0100735

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)

Episodic hypertension (HP:0000875)

Hypertension associated with pheochromocytoma (HP:0002640)

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:0100735	HP:0100735	Hypertensive crisis	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0100735	HP:0100735	Hypertensive crisis	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0100735	HP:0100735	Hypertensive crisis	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0100735	HP:0100735	Hypertensive crisis	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0100735	HP:0100735	Hypertensive crisis	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0100735	HP:0100735	Hypertensive crisis	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0100735	HP:0100735	Hypertensive crisis	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0100735	HP:0100735	Hypertensive crisis	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0100735	HP:0100735	Hypertensive crisis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0100735	HP:0100735	Hypertensive crisis	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0100735	HP:0100735	Hypertensive crisis	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0100735	HP:0100735	Hypertensive crisis	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0100735	HP:0100735	Hypertensive crisis	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0100735	HP:0100735	Hypertensive crisis	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0100735	HP:0100735	Hypertensive crisis	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0100735	HP:0100735	Hypertensive crisis	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100735	HP:0100735	Hypertensive crisis	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100735	HP:0100735	Hypertensive crisis	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0100735	HP:0100735	Hypertensive crisis	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0100735	HP:0100735	Hypertensive crisis	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional

Genes (20) :ARVCF CAV1 CCN2 CCR6 COMT GP1BB HIRA HLA-B HLA-DRB1 IL12B IRF5 JMJD1C MLX MYMK MYMX RREB1 SEC24C TBX1 TLR7 UFD1

Diseases (5) :ORPHA:567 ORPHA:220393 ORPHA:3287 ORPHA:1358 OMIM:301080

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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