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 cardiovascular system physiology (HP:0011025)

Parent Node:
Abnormal systemic blood pressure (HP:0030972)

..Starting node
..Hypotension (HP:0002615)

Term ID:

2615

Name:

Hypotension

Synonym:

Arterial hypotension; Low blood pressure

Definition:

Low Blood Pressure, vascular hypotension.

Comments:

Reference:

HP:0002615

Genes and Diseases:

Child Nodes:

........

Orthostatic hypotension (HP:0001278)

................... HP:0004926 Orthostatic hypotension due to autonomic dysfunction
................... HP:0005307 Postural hypotension with compensatory tachycardia

........

Low-to-normal blood pressure (HP:0002632)

Sister Nodes:

Hypertension (HP:0000822)

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:0002615	HP:0002615	Hypotension	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0002615	HP:0002615	Hypotension	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	147
HP:0002615	HP:0002615	Hypotension	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0002615	HP:0002615	Hypotension	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0002615	HP:0002615	Hypotension	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0002615	HP:0002615	Hypotension	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0002615	HP:0002615	Hypotension	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0002615	HP:0002615	Hypotension	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia	.	104
HP:0002615	HP:0002615	Hypotension	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002615	HP:0002615	Hypotension	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002615	HP:0002615	Hypotension	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002615	HP:0002615	Hypotension	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0002615	HP:0002615	Hypotension	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0002615	HP:0002615	Hypotension	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0002615	HP:0002615	Hypotension	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002615	HP:0002615	Hypotension	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002615	HP:0002615	Hypotension	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0002615	HP:0002615	Hypotension	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0002615	HP:0002615	Hypotension	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0002615	HP:0002615	Hypotension	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0002615	HP:0002615	Hypotension	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0002615	HP:0002615	Hypotension	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant		3
HP:0002615	HP:0002615	Hypotension	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0002615	HP:0002615	Hypotension	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0002615	HP:0002615	Hypotension	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0002615	HP:0002615	Hypotension	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0002615	HP:0002615	Hypotension	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0002615	HP:0002615	Hypotension	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0002615	HP:0002615	Hypotension	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0002615	HP:0002615	Hypotension	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0002615	HP:0002615	Hypotension	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0002615	HP:0002615	Hypotension	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0002615	HP:0002615	Hypotension	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002615	HP:0002615	Hypotension	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002615	HP:0002615	Hypotension	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0002615	HP:0002615	Hypotension	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0002615	HP:0002615	Hypotension	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0002615	HP:0002615	Hypotension	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0002615	HP:0002615	Hypotension	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0002615	HP:0002615	Hypotension	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0002615	HP:0002615	Hypotension	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040283 - Occasional	86
HP:0002615	HP:0002615	Hypotension	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0002615	HP:0002615	Hypotension	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0002615	HP:0002615	Hypotension	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0002615	HP:0002615	Hypotension	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0002615	HP:0002615	Hypotension	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0002615	HP:0002615	Hypotension	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional	30
HP:0002615	HP:0002615	Hypotension	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0002615	HP:0002615	Hypotension	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0002615	HP:0002615	Hypotension	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0002615	HP:0002615	Hypotension	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0002615	HP:0002615	Hypotension	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0002615	HP:0002615	Hypotension	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0002615	HP:0002615	Hypotension	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0002615	HP:0002615	Hypotension	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0002615	HP:0002615	Hypotension	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0002615	HP:0002615	Hypotension	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0002615	HP:0002615	Hypotension	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0002615	HP:0002615	Hypotension	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0002615	HP:0002615	Hypotension	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0002615	HP:0002615	Hypotension	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002615	HP:0002615	Hypotension	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0002615	HP:0002615	Hypotension	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent	1
HP:0002615	HP:0002615	Hypotension	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0002615	HP:0002615	Hypotension	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0002615	HP:0002615	Hypotension	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0002615	HP:0002615	Hypotension	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002615	HP:0002615	Hypotension	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0002615	HP:0002615	Hypotension	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0002615	HP:0002615	Hypotension	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0002615	HP:0002615	Hypotension	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0002615	HP:0002615	Hypotension	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002615	HP:0002615	Hypotension	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0002615	HP:0002615	Hypotension	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0002615	HP:0002615	Hypotension	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0002615	HP:0002615	Hypotension	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0002615	HP:0002615	Hypotension	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002615	HP:0002615	Hypotension	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0002615	HP:0002615	Hypotension	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0002615	HP:0002615	Hypotension	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002615	HP:0002615	Hypotension	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0002615	HP:0002615	Hypotension	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0002615	HP:0002615	Hypotension	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0002615	HP:0002615	Hypotension	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0002615	HP:0002615	Hypotension	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0002615	HP:0002615	Hypotension	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0002615	HP:0002615	Hypotension	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0002615	HP:0002615	Hypotension	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002615	HP:0002615	Hypotension	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0002615	HP:0002615	Hypotension	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0002615	HP:0002615	Hypotension	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0002615	HP:0002615	Hypotension	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002615	HP:0002615	Hypotension	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0002615	HP:0002615	Hypotension	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002615	HP:0002615	Hypotension	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0002615	HP:0002615	Hypotension	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0002615	HP:0002615	Hypotension	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040281 - Very frequent	2
HP:0002615	HP:0002615	Hypotension	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002615	HP:0002615	Hypotension	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency	.	4
HP:0002615	HP:0002615	Hypotension	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional	64
HP:0002615	HP:0002615	Hypotension	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	51
HP:0002615	HP:0002615	Hypotension	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	33
HP:0002615	HP:0002615	Hypotension	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0002615	HP:0002615	Hypotension	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0002615	HP:0002615	Hypotension	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0002615	HP:0002615	Hypotension	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0002615	HP:0002615	Hypotension	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0002615	HP:0002615	Hypotension	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0002615	HP:0002615	Hypotension	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0002615	HP:0002615	Hypotension	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0002615	HP:0002615	Hypotension	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0002615	HP:0002615	Hypotension	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0002615	HP:0002615	Hypotension	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002615	HP:0002615	Hypotension	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002615	HP:0002615	Hypotension	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002615	HP:0002615	Hypotension	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0002615	HP:0002615	Hypotension	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040281 - Very frequent	57
HP:0002615	HP:0002615	Hypotension	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002615	HP:0002615	Hypotension	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002615	HP:0002615	Hypotension	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002615	HP:0002615	Hypotension	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0002615	HP:0002615	Hypotension	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0002615	HP:0002615	Hypotension	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85
HP:0002615	HP:0002615	Hypotension	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490
HP:0002615	HP:0002615	Hypotension	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0002615	HP:0500105	Decreased systolic blood pressure	1	CL E G H
HP:0002615	HP:0500104	Decreased diastolic blood pressure	1	CL E G H
HP:0002615	HP:0001278	Orthostatic hypotension	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0002615	HP:0001278	Orthostatic hypotension	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002615	HP:0001278	Orthostatic hypotension	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0002615	HP:0001278	Orthostatic hypotension	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0002615	HP:0001278	Orthostatic hypotension	1	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0002615	HP:0001278	Orthostatic hypotension	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0002615	HP:0002632	Low-to-normal blood pressure	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	27
HP:0002615	HP:0001278	Orthostatic hypotension	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	373
HP:0002615	HP:0001278	Orthostatic hypotension	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	660
HP:0002615	HP:0001278	Orthostatic hypotension	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	325
HP:0002615	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0002615	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0002615	HP:0001278	Orthostatic hypotension	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0002615	HP:0001278	Orthostatic hypotension	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0002615	HP:0001278	Orthostatic hypotension	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0002615	HP:0001278	Orthostatic hypotension	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.	73
HP:0002615	HP:0001278	Orthostatic hypotension	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040281 - Very frequent	80
HP:0002615	HP:0001278	Orthostatic hypotension	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0002615	HP:0001278	Orthostatic hypotension	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0002615	HP:0001278	Orthostatic hypotension	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0002615	HP:0001278	Orthostatic hypotension	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0002615	HP:0001278	Orthostatic hypotension	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002615	HP:0001278	Orthostatic hypotension	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0002615	HP:0001278	Orthostatic hypotension	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	HP:0040283 - Occasional	86
HP:0002615	HP:0001278	Orthostatic hypotension	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0002615	HP:0001278	Orthostatic hypotension	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional	24
HP:0002615	HP:0001278	Orthostatic hypotension	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0002615	HP:0001278	Orthostatic hypotension	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0002615	HP:0001278	Orthostatic hypotension	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002615	HP:0001278	Orthostatic hypotension	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0002615	HP:0001278	Orthostatic hypotension	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0002615	HP:0002632	Low-to-normal blood pressure	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002615	HP:0001278	Orthostatic hypotension	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0002615	HP:0001278	Orthostatic hypotension	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0002615	HP:0001278	Orthostatic hypotension	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002615	HP:0001278	Orthostatic hypotension	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0002615	HP:0001278	Orthostatic hypotension	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0002615	HP:0001278	Orthostatic hypotension	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002615	HP:0001278	Orthostatic hypotension	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0002615	HP:0001278	Orthostatic hypotension	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0002615	HP:0001278	Orthostatic hypotension	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002615	HP:0001278	Orthostatic hypotension	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002615	HP:0001278	Orthostatic hypotension	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency		40
HP:0002615	HP:0002632	Low-to-normal blood pressure	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0002615	HP:0002632	Low-to-normal blood pressure	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	145
HP:0002615	HP:0001278	Orthostatic hypotension	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0002615	HP:0001278	Orthostatic hypotension	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0002615	HP:0001278	Orthostatic hypotension	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0002615	HP:0001278	Orthostatic hypotension	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002615	HP:0001278	Orthostatic hypotension	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002615	HP:0001278	Orthostatic hypotension	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0002615	HP:0001278	Orthostatic hypotension	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0002615	HP:0001278	Orthostatic hypotension	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0002615	HP:0500107	Isolated diastolic hypotension	2	CL E G H
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0002615	HP:0005307	Postural hypotension with compensatory tachycardia	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0002615	HP:0005307	Postural hypotension with compensatory tachycardia	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0002615	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37

Genes (105) :AAAS ABCA3 ACAT1 ACE AGT AGTR1 AIP ALB ARSA ASXL1 ATP7A ATRX CASR CAV1 CBL CD46 CDH23 CFH CFI CHCHD2 CHRNA3 CLCNKB COL1A1 COL5A1 COL5A2 COQ2 CYB561 CYP11A1 CYP11B2 DAXX DBH DCTN1 DDC DNAJC13 EIF4G1 ELP1 FMR1 FOXA2 GBA1 GBE1 GIGYF2 GLI2 GMPPA GNA11 GSN HELLPAR HESX1 HEXB HMGCL HSD3B2 IL12A IL12RB1 IRF4 IRF5 KCNJ1 KIT KYNU LEP LEPR LHX4 LMNB1 LRRK2 MC2R MEN1 MMEL1 MRAP MUC1 NFKB2 NNT NR3C2 NTRK1 OTX2 PDE4D POU1F1 POU2AF1 PRKAG2 PROP1 PSAP REN RUNX1 RYR1 SAA1 SCNN1A SERPINA6 SERPING1 SFTPB SFTPC SIM1 SLC12A1 SLC12A3 SLC25A20 SNCA SOX3 SPG11 SPIB SRSF2 STAR TBX19 TET2 TNFSF15 TNPO3 TTR TXNRD2 VHL VPS35

Diseases (78) :OMIM:231550 ORPHA:70587 ORPHA:134 OMIM:267430 ORPHA:2965 OMIM:616000 ORPHA:309271 ORPHA:98850 ORPHA:98849 OMIM:304150 ORPHA:100075 ORPHA:428 OMIM:606721 ORPHA:244242 ORPHA:91347 OMIM:616710 OMIM:191800 OMIM:607364 ORPHA:358 ORPHA:287 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:618182 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:230 OMIM:223360 ORPHA:178509 OMIM:608643 ORPHA:411602 ORPHA:1764 OMIM:223900 ORPHA:93256 ORPHA:95494 OMIM:263570 OMIM:615510 ORPHA:85448 OMIM:268800 ORPHA:20 ORPHA:90791 ORPHA:186 ORPHA:3452 OMIM:241200 ORPHA:79455 ORPHA:79155 ORPHA:66628 ORPHA:179494 ORPHA:99027 OMIM:169500 ORPHA:361 OMIM:174000 ORPHA:293978 OMIM:177735 ORPHA:642 OMIM:256800 ORPHA:439822 OMIM:261740 ORPHA:90695 ORPHA:466650 OMIM:145600 ORPHA:85445 OMIM:264350 OMIM:611489 ORPHA:100050 ORPHA:369873 OMIM:601678 OMIM:263800 OMIM:212138 ORPHA:159 OMIM:605543 ORPHA:2822 ORPHA:199296 OMIM:105210 OMIM:263400

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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