Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cardiovascular system (HP:0001626)help
Parent Node:
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Abnormal cardiovascular system physiology (HP:0011025)help
..Starting node
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Abnormal systemic blood pressure (HP:0030972)help
Term ID: 30972
Name: Abnormal systemic blood pressure
Synonym: Abnormal systemic BP
Definition: A chronic deviation from normal pressure in the systemic arterial system.
Comments:
Reference: HP:0030972
Genes and Diseases:
 
       Child Nodes:
........expandHypertension (HP:0000822) help
................... HP:0000875 Episodic hypertension
................... HP:0001409 Portal hypertension
................... HP:0002640 Hypertension associated with pheochromocytoma
................... HP:0004421 Elevated systolic blood pressure
................... HP:0004972 Elevated mean arterial pressure
................... HP:0005117 Elevated diastolic blood pressure
................... HP:0100735 Hypertensive crisis
................... HP:0100817 Renovascular hypertension
........expandHypotension (HP:0002615) help
................... HP:0001278 Orthostatic hypotension
................... HP:0002632 Low-to-normal blood pressure

 Sister Nodes: 
..expandAbnormal cardiac atrial physiology (HP:0025443) help
..expandAbnormal cardiac ventricular function (HP:0030872) help
..expandAbnormal echocardiogram (HP:0003116) help
..expandAbnormal heart sound (HP:0031657) help
..expandAbnormal heart valve physiology (HP:0031653) help
..expandAbnormal vascular physiology (HP:0030163) help
..expandAbnormality of blood circulation (HP:0011028) help
..expandAbnormality of cardiovascular system electrophysiology (HP:0030956) help
..expandAngina pectoris (HP:0001681) help
..expandCongestive heart failure (HP:0001635) help
..expandMyocardial infarction (HP:0001658) help
..expandShock (HP:0031273) help
..expandSyncope (HP:0001279) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030972HP:0030972Abnormal systemic blood pressure0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndrome147
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasis111
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemia20
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2415
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemia67
HP:0030972HP:0030972Abnormal systemic blood pressure0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemia76
HP:0030972HP:0030972Abnormal systemic blood pressure0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0030972HP:0030972Abnormal systemic blood pressure0ACE CL E G H16362707OMIM:267430Renal tubular dysgenesis113
HP:0030972HP:0030972Abnormal systemic blood pressure0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0030972HP:0030972Abnormal systemic blood pressure0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0030972HP:0030972Abnormal systemic blood pressure0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0030972HP:0030972Abnormal systemic blood pressure0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0030972HP:0030972Abnormal systemic blood pressure0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0030972HP:0030972Abnormal systemic blood pressure0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0030972HP:0030972Abnormal systemic blood pressure0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0030972HP:0030972Abnormal systemic blood pressure0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0030972HP:0030972Abnormal systemic blood pressure0ADA2 CL E G H518161839ORPHA:820Sneddon syndrome22
HP:0030972HP:0030972Abnormal systemic blood pressure0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0030972HP:0030972Abnormal systemic blood pressure0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentis84
HP:0030972HP:0030972Abnormal systemic blood pressure0ADD1 CL E G H118243OMIM:145500Hypertension, essential1
HP:0030972HP:0030972Abnormal systemic blood pressure0AGT CL E G H183333OMIM:145500Hypertension, essential48
HP:0030972HP:0030972Abnormal systemic blood pressure0AGT CL E G H183333OMIM:267430Renal tubular dysgenesis48
HP:0030972HP:0030972Abnormal systemic blood pressure0AGTR1 CL E G H185336OMIM:145500Hypertension, essential33
HP:0030972HP:0030972Abnormal systemic blood pressure0AGTR1 CL E G H185336OMIM:267430Renal tubular dysgenesis33
HP:0030972HP:0030972Abnormal systemic blood pressure0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0030972HP:0030972Abnormal systemic blood pressure0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0030972HP:0030972Abnormal systemic blood pressure0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0030972HP:0030972Abnormal systemic blood pressure0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0030972HP:0030972Abnormal systemic blood pressure0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0030972HP:0030972Abnormal systemic blood pressure0ALG5 CL E G H2988020266OMIM:620056
HP:0030972HP:0030972Abnormal systemic blood pressure0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0030972HP:0030972Abnormal systemic blood pressure0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0030972HP:0030972Abnormal systemic blood pressure0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0030972HP:0030972Abnormal systemic blood pressure0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0030972HP:0030972Abnormal systemic blood pressure0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndrome132
HP:0030972HP:0030972Abnormal systemic blood pressure0ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysm
HP:0030972HP:0030972Abnormal systemic blood pressure0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral40
HP:0030972HP:0030972Abnormal systemic blood pressure0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemia356
HP:0030972HP:0030972Abnormal systemic blood pressure0APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiency19
HP:0030972HP:0030972Abnormal systemic blood pressure0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0030972HP:0030972Abnormal systemic blood pressure0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0030972HP:0030972Abnormal systemic blood pressure0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0030972HP:0030972Abnormal systemic blood pressure0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0030972HP:0030972Abnormal systemic blood pressure0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 27
HP:0030972HP:0030972Abnormal systemic blood pressure0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0030972HP:0030972Abnormal systemic blood pressure0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0030972HP:0030972Abnormal systemic blood pressure0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0030972HP:0030972Abnormal systemic blood pressure0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm145
HP:0030972HP:0030972Abnormal systemic blood pressure0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0030972HP:0030972Abnormal systemic blood pressure0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0030972HP:0030972Abnormal systemic blood pressure0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0030972HP:0030972Abnormal systemic blood pressure0AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0030972HP:0030972Abnormal systemic blood pressure0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral8
HP:0030972HP:0030972Abnormal systemic blood pressure0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0030972HP:0030972Abnormal systemic blood pressure0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0030972HP:0030972Abnormal systemic blood pressure0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0030972HP:0030972Abnormal systemic blood pressure0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0030972HP:0030972Abnormal systemic blood pressure0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0030972HP:0030972Abnormal systemic blood pressure0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valve22
HP:0030972HP:0030972Abnormal systemic blood pressure0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0030972HP:0030972Abnormal systemic blood pressure0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0030972HP:0030972Abnormal systemic blood pressure0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0030972HP:0030972Abnormal systemic blood pressure0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0030972HP:0030972Abnormal systemic blood pressure0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0030972HP:0030972Abnormal systemic blood pressure0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0030972HP:0030972Abnormal systemic blood pressure0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0030972HP:0030972Abnormal systemic blood pressure0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0030972HP:0030972Abnormal systemic blood pressure0CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV75
HP:0030972HP:0030972Abnormal systemic blood pressure0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0030972HP:0030972Abnormal systemic blood pressure0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0030972HP:0030972Abnormal systemic blood pressure0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0030972HP:0030972Abnormal systemic blood pressure0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0030972HP:0030972Abnormal systemic blood pressure0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0030972HP:0030972Abnormal systemic blood pressure0CBS CL E G H8751550ORPHA:394Classic homocystinuria242
HP:0030972HP:0030972Abnormal systemic blood pressure0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0030972HP:0030972Abnormal systemic blood pressure0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0030972HP:0030972Abnormal systemic blood pressure0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0030972HP:0030972Abnormal systemic blood pressure0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0030972Abnormal systemic blood pressure0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0030972HP:0030972Abnormal systemic blood pressure0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0030972Abnormal systemic blood pressure0CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0030972HP:0030972Abnormal systemic blood pressure0CD46 CL E G H41796953ORPHA:244242HELLP syndrome39
HP:0030972HP:0030972Abnormal systemic blood pressure0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 239
HP:0030972HP:0030972Abnormal systemic blood pressure0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0030972HP:0030972Abnormal systemic blood pressure0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0030972HP:0030972Abnormal systemic blood pressure0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0030972HP:0030972Abnormal systemic blood pressure0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0030972HP:0030972Abnormal systemic blood pressure0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0030972HP:0030972Abnormal systemic blood pressure0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0030972HP:0030972Abnormal systemic blood pressure0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0030972HP:0030972Abnormal systemic blood pressure0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0030972HP:0030972Abnormal systemic blood pressure0CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0030972HP:0030972Abnormal systemic blood pressure0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndrome34
HP:0030972HP:0030972Abnormal systemic blood pressure0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0030972HP:0030972Abnormal systemic blood pressure0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0030972HP:0030972Abnormal systemic blood pressure0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndrome342
HP:0030972HP:0030972Abnormal systemic blood pressure0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 430
HP:0030972HP:0030972Abnormal systemic blood pressure0CFH CL E G H30754883ORPHA:244242HELLP syndrome86
HP:0030972HP:0030972Abnormal systemic blood pressure0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0030972HP:0030972Abnormal systemic blood pressure0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0030972HP:0030972Abnormal systemic blood pressure0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0030972HP:0030972Abnormal systemic blood pressure0CFI CL E G H34265394ORPHA:244242HELLP syndrome57
HP:0030972HP:0030972Abnormal systemic blood pressure0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 357
HP:0030972HP:0030972Abnormal systemic blood pressure0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant3
HP:0030972HP:0030972Abnormal systemic blood pressure0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0030972HP:0030972Abnormal systemic blood pressure0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0030972HP:0030972Abnormal systemic blood pressure0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0030972HP:0030972Abnormal systemic blood pressure0CLCN2 CL E G H11812020OMIM:605635Hyperaldosteronism, familial, type II44
HP:0030972HP:0030972Abnormal systemic blood pressure0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 327
HP:0030972HP:0030972Abnormal systemic blood pressure0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0030972HP:0030972Abnormal systemic blood pressure0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0030972HP:0030972Abnormal systemic blood pressure0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0030972HP:0030972Abnormal systemic blood pressure0COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysm749
HP:0030972HP:0030972Abnormal systemic blood pressure0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0030972HP:0030972Abnormal systemic blood pressure0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant161
HP:0030972HP:0030972Abnormal systemic blood pressure0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive161
HP:0030972HP:0030972Abnormal systemic blood pressure0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive174
HP:0030972HP:0030972Abnormal systemic blood pressure0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked678
HP:0030972HP:0030972Abnormal systemic blood pressure0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0030972HP:0030972Abnormal systemic blood pressure0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0030972HP:0030972Abnormal systemic blood pressure0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0030972HP:0030972Abnormal systemic blood pressure0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0030972HP:0030972Abnormal systemic blood pressure0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0030972HP:0030972Abnormal systemic blood pressure0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0030972HP:0030972Abnormal systemic blood pressure0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0030972HP:0030972Abnormal systemic blood pressure0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0030972HP:0030972Abnormal systemic blood pressure0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0030972HP:0030972Abnormal systemic blood pressure0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0030972HP:0030972Abnormal systemic blood pressure0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0030972HP:0030972Abnormal systemic blood pressure0CUL3 CL E G H84522553OMIM:614496Pseudohypoaldosteronism, type IIE92
HP:0030972HP:0030972Abnormal systemic blood pressure0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency53
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency86
HP:0030972HP:0030972Abnormal systemic blood pressure0CYP3A5 CL E G H15772638OMIM:145500Hypertension, essential2
HP:0030972HP:0030972Abnormal systemic blood pressure0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0030972HP:0030972Abnormal systemic blood pressure0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0030972HP:0030972Abnormal systemic blood pressure0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0030972HP:0030972Abnormal systemic blood pressure0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0030972HP:0030972Abnormal systemic blood pressure0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0030972HP:0030972Abnormal systemic blood pressure0DCTN1 CL E G H16392711ORPHA:178509Perry syndrome86
HP:0030972HP:0030972Abnormal systemic blood pressure0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0030972HP:0030972Abnormal systemic blood pressure0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030972HP:0030972Abnormal systemic blood pressure0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0030972HP:0030972Abnormal systemic blood pressure0DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic57
HP:0030972HP:0030972Abnormal systemic blood pressure0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0030972HP:0030972Abnormal systemic blood pressure0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0030972HP:0030972Abnormal systemic blood pressure0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0030972HP:0030972Abnormal systemic blood pressure0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0030972HP:0030972Abnormal systemic blood pressure0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0030972Abnormal systemic blood pressure0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0030972HP:0030972Abnormal systemic blood pressure0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease
HP:0030972HP:0030972Abnormal systemic blood pressure0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0030972Abnormal systemic blood pressure0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0030972HP:0030972Abnormal systemic blood pressure0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0030972HP:0030972Abnormal systemic blood pressure0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0030972HP:0030972Abnormal systemic blood pressure0DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 37
HP:0030972HP:0030972Abnormal systemic blood pressure0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0030972HP:0030972Abnormal systemic blood pressure0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0030972HP:0030972Abnormal systemic blood pressure0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction13
HP:0030972HP:0030972Abnormal systemic blood pressure0ECE1 CL E G H18893146OMIM:145500Hypertension, essential13
HP:0030972HP:0030972Abnormal systemic blood pressure0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0030972HP:0030972Abnormal systemic blood pressure0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0030972HP:0030972Abnormal systemic blood pressure0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2257
HP:0030972HP:0030972Abnormal systemic blood pressure0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0030972Abnormal systemic blood pressure0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0030972HP:0030972Abnormal systemic blood pressure0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0030972HP:0030972Abnormal systemic blood pressure0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030972HP:0030972Abnormal systemic blood pressure0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0030972HP:0030972Abnormal systemic blood pressure0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0030972HP:0030972Abnormal systemic blood pressure0ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysm186
HP:0030972HP:0030972Abnormal systemic blood pressure0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0030972HP:0030972Abnormal systemic blood pressure0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1151
HP:0030972HP:0030972Abnormal systemic blood pressure0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0030972HP:0030972Abnormal systemic blood pressure0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0030972HP:0030972Abnormal systemic blood pressure0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0030972HP:0030972Abnormal systemic blood pressure0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0030972HP:0030972Abnormal systemic blood pressure0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0030972HP:0030972Abnormal systemic blood pressure0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndrome102
HP:0030972HP:0030972Abnormal systemic blood pressure0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0030972HP:0030972Abnormal systemic blood pressure0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0030972HP:0030972Abnormal systemic blood pressure0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0030972HP:0030972Abnormal systemic blood pressure0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentis1361
HP:0030972HP:0030972Abnormal systemic blood pressure0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0030972HP:0030972Abnormal systemic blood pressure0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0030972HP:0030972Abnormal systemic blood pressure0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral47
HP:0030972HP:0030972Abnormal systemic blood pressure0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0030972HP:0030972Abnormal systemic blood pressure0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0030972HP:0030972Abnormal systemic blood pressure0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0030972HP:0030972Abnormal systemic blood pressure0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0030972HP:0030972Abnormal systemic blood pressure0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0030972HP:0030972Abnormal systemic blood pressure0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0030972HP:0030972Abnormal systemic blood pressure0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria55
HP:0030972HP:0030972Abnormal systemic blood pressure0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0030972HP:0030972Abnormal systemic blood pressure0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0030972HP:0030972Abnormal systemic blood pressure0FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathy9
HP:0030972HP:0030972Abnormal systemic blood pressure0FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 29
HP:0030972HP:0030972Abnormal systemic blood pressure0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0030972HP:0030972Abnormal systemic blood pressure0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0030972HP:0030972Abnormal systemic blood pressure0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0030972HP:0030972Abnormal systemic blood pressure0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0030972HP:0030972Abnormal systemic blood pressure0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0030972HP:0030972Abnormal systemic blood pressure0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 36
HP:0030972HP:0030972Abnormal systemic blood pressure0GATA5 CL E G H14062815802ORPHA:402075Familial bicuspid aortic valve10
HP:0030972HP:0030972Abnormal systemic blood pressure0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0030972HP:0030972Abnormal systemic blood pressure0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0030972HP:0030972Abnormal systemic blood pressure0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0030972HP:0030972Abnormal systemic blood pressure0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0030972HP:0030972Abnormal systemic blood pressure0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0030972HP:0030972Abnormal systemic blood pressure0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0030972HP:0030972Abnormal systemic blood pressure0GDF2 CL E G H26584217OMIM:615506TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT58
HP:0030972HP:0030972Abnormal systemic blood pressure0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0030972HP:0030972Abnormal systemic blood pressure0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0030972HP:0030972Abnormal systemic blood pressure0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0030972HP:0030972Abnormal systemic blood pressure0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 368
HP:0030972HP:0030972Abnormal systemic blood pressure0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0030972HP:0030972Abnormal systemic blood pressure0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0030972HP:0030972Abnormal systemic blood pressure0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0030972HP:0030972Abnormal systemic blood pressure0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0030972HP:0030972Abnormal systemic blood pressure0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0030972HP:0030972Abnormal systemic blood pressure0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0030972HP:0030972Abnormal systemic blood pressure0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0030972HP:0030972Abnormal systemic blood pressure0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0030972HP:0030972Abnormal systemic blood pressure0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0030972HP:0030972Abnormal systemic blood pressure0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030972HP:0030972Abnormal systemic blood pressure0GNB3 CL E G H27844400OMIM:145500Hypertension, essential5
HP:0030972HP:0030972Abnormal systemic blood pressure0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0030972HP:0030972Abnormal systemic blood pressure0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0030972HP:0030972Abnormal systemic blood pressure0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0030972HP:0030972Abnormal systemic blood pressure0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0030972HP:0030972Abnormal systemic blood pressure0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0030972HP:0030972Abnormal systemic blood pressure0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0030972HP:0030972Abnormal systemic blood pressure0GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasia
HP:0030972HP:0030972Abnormal systemic blood pressure0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0030972HP:0030972Abnormal systemic blood pressure0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030972HP:0030972Abnormal systemic blood pressure0HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0030972HP:0030972Abnormal systemic blood pressure0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0030972HP:0030972Abnormal systemic blood pressure0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0030972HP:0030972Abnormal systemic blood pressure0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0030972HP:0030972Abnormal systemic blood pressure0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0030972HP:0030972Abnormal systemic blood pressure0HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0030972HP:0030972Abnormal systemic blood pressure0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0030972HP:0030972Abnormal systemic blood pressure0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0030972HP:0030972Abnormal systemic blood pressure0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0030972HP:0030972Abnormal systemic blood pressure0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0030972HP:0030972Abnormal systemic blood pressure0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0030972HP:0030972Abnormal systemic blood pressure0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0030972HP:0030972Abnormal systemic blood pressure0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0030972HP:0030972Abnormal systemic blood pressure0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0030972HP:0030972Abnormal systemic blood pressure0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0030972HP:0030972Abnormal systemic blood pressure0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0030972HP:0030972Abnormal systemic blood pressure0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndrome9
HP:0030972HP:0030972Abnormal systemic blood pressure0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0030972HP:0030972Abnormal systemic blood pressure0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0030972HP:0030972Abnormal systemic blood pressure0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0030972HP:0030972Abnormal systemic blood pressure0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0030972HP:0030972Abnormal systemic blood pressure0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0030972HP:0030972Abnormal systemic blood pressure0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0030972HP:0030972Abnormal systemic blood pressure0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0030972HP:0030972Abnormal systemic blood pressure0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0030972HP:0030972Abnormal systemic blood pressure0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0030972HP:0030972Abnormal systemic blood pressure0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0030972HP:0030972Abnormal systemic blood pressure0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030972HP:0030972Abnormal systemic blood pressure0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0030972HP:0030972Abnormal systemic blood pressure0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0030972HP:0030972Abnormal systemic blood pressure0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0030972HP:0030972Abnormal systemic blood pressure0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0030972HP:0030972Abnormal systemic blood pressure0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0030972HP:0030972Abnormal systemic blood pressure0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0030972HP:0030972Abnormal systemic blood pressure0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0030972HP:0030972Abnormal systemic blood pressure0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0030972HP:0030972Abnormal systemic blood pressure0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndrome106
HP:0030972HP:0030972Abnormal systemic blood pressure0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndrome61
HP:0030972HP:0030972Abnormal systemic blood pressure0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0030972HP:0030972Abnormal systemic blood pressure0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0030972HP:0030972Abnormal systemic blood pressure0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0030972HP:0030972Abnormal systemic blood pressure0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0030972HP:0030972Abnormal systemic blood pressure0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0030972HP:0030972Abnormal systemic blood pressure0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0030972HP:0030972Abnormal systemic blood pressure0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0030972HP:0030972Abnormal systemic blood pressure0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0030972HP:0030972Abnormal systemic blood pressure0JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0030972HP:0030972Abnormal systemic blood pressure0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0030972HP:0030972Abnormal systemic blood pressure0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0030972HP:0030972Abnormal systemic blood pressure0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0030972HP:0030972Abnormal systemic blood pressure0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0030972HP:0030972Abnormal systemic blood pressure0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III128
HP:0030972HP:0030972Abnormal systemic blood pressure0KCNMB1 CL E G H37796285OMIM:608622HYPERTENSION, DIASTOLIC, RESISTANCE TO1
HP:0030972HP:0030972Abnormal systemic blood pressure0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0030972HP:0030972Abnormal systemic blood pressure0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0030972HP:0030972Abnormal systemic blood pressure0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0030972HP:0030972Abnormal systemic blood pressure0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0030972HP:0030972Abnormal systemic blood pressure0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0030972HP:0030972Abnormal systemic blood pressure0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0030972HP:0030972Abnormal systemic blood pressure0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0030972HP:0030972Abnormal systemic blood pressure0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm327
HP:0030972HP:0030972Abnormal systemic blood pressure0KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID118
HP:0030972HP:0030972Abnormal systemic blood pressure0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0030972HP:0030972Abnormal systemic blood pressure0KYNU CL E G H89426469ORPHA:79155Hydroxykynureninuria5
HP:0030972HP:0030972Abnormal systemic blood pressure0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0030972HP:0030972Abnormal systemic blood pressure0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia54
HP:0030972HP:0030972Abnormal systemic blood pressure0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0030972HP:0030972Abnormal systemic blood pressure0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemia2157
HP:0030972HP:0030972Abnormal systemic blood pressure0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemia73
HP:0030972HP:0030972Abnormal systemic blood pressure0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0030972HP:0030972Abnormal systemic blood pressure0LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0030972HP:0030972Abnormal systemic blood pressure0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0030972HP:0030972Abnormal systemic blood pressure0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0030972HP:0030972Abnormal systemic blood pressure0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0030972HP:0030972Abnormal systemic blood pressure0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0030972HP:0030972Abnormal systemic blood pressure0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0030972HP:0030972Abnormal systemic blood pressure0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0030972HP:0030972Abnormal systemic blood pressure0LMX1B CL E G H40106654ORPHA:2613Nail-patella-like renal disease165
HP:0030972HP:0030972Abnormal systemic blood pressure0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0030972HP:0030972Abnormal systemic blood pressure0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndrome5
HP:0030972HP:0030972Abnormal systemic blood pressure0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 226
HP:0030972HP:0030972Abnormal systemic blood pressure0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0030972HP:0030972Abnormal systemic blood pressure0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral32
HP:0030972HP:0030972Abnormal systemic blood pressure0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0030972HP:0030972Abnormal systemic blood pressure0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0030972HP:0030972Abnormal systemic blood pressure0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0030972HP:0030972Abnormal systemic blood pressure0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0030972HP:0030972Abnormal systemic blood pressure0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0030972HP:0030972Abnormal systemic blood pressure0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0030972HP:0030972Abnormal systemic blood pressure0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiency54
HP:0030972HP:0030972Abnormal systemic blood pressure0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0030972HP:0030972Abnormal systemic blood pressure0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0030972HP:0030972Abnormal systemic blood pressure0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030972HP:0030972Abnormal systemic blood pressure0MEF2A CL E G H42056993OMIM:608320Coronary artery disease, autosomal dominant, 15
HP:0030972HP:0030972Abnormal systemic blood pressure0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0030972HP:0030972Abnormal systemic blood pressure0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0030972HP:0030972Abnormal systemic blood pressure0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0030972HP:0030972Abnormal systemic blood pressure0MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0030972HP:0030972Abnormal systemic blood pressure0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0030972HP:0030972Abnormal systemic blood pressure0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0030972HP:0030972Abnormal systemic blood pressure0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0030972HP:0030972Abnormal systemic blood pressure0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0030972HP:0030972Abnormal systemic blood pressure0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0030972HP:0030972Abnormal systemic blood pressure0MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0030972HP:0030972Abnormal systemic blood pressure0MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0030972HP:0030972Abnormal systemic blood pressure0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0030972HP:0030972Abnormal systemic blood pressure0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0030972HP:0030972Abnormal systemic blood pressure0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0030972HP:0030972Abnormal systemic blood pressure0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblE88
HP:0030972HP:0030972Abnormal systemic blood pressure0MTTP CL E G H45477467OMIM:605552Abdominal obesity-metabolic syndrome 181
HP:0030972HP:0030972Abnormal systemic blood pressure0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0030972HP:0030972Abnormal systemic blood pressure0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0030972HP:0030972Abnormal systemic blood pressure0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0030972HP:0030972Abnormal systemic blood pressure0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0030972HP:0030972Abnormal systemic blood pressure0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0030972HP:0030972Abnormal systemic blood pressure0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0030972HP:0030972Abnormal systemic blood pressure0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0030972HP:0030972Abnormal systemic blood pressure0NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosis5
HP:0030972HP:0030972Abnormal systemic blood pressure0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0030972HP:0030972Abnormal systemic blood pressure0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0030972HP:0030972Abnormal systemic blood pressure0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0030972HP:0030972Abnormal systemic blood pressure0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0030972HP:0030972Abnormal systemic blood pressure0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0030972HP:0030972Abnormal systemic blood pressure0NKX2-5 CL E G H14822488ORPHA:402075Familial bicuspid aortic valve90
HP:0030972HP:0030972Abnormal systemic blood pressure0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0030972HP:0030972Abnormal systemic blood pressure0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0030972HP:0030972Abnormal systemic blood pressure0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0030972HP:0030972Abnormal systemic blood pressure0NOS3 CL E G H48467876OMIM:145500Hypertension, essential8
HP:0030972HP:0030972Abnormal systemic blood pressure0NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 18
HP:0030972HP:0030972Abnormal systemic blood pressure0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0030972HP:0030972Abnormal systemic blood pressure0NOTCH1 CL E G H48517881ORPHA:402075Familial bicuspid aortic valve452
HP:0030972HP:0030972Abnormal systemic blood pressure0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0030972HP:0030972Abnormal systemic blood pressure0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndrome85
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndrome157
HP:0030972HP:0030972Abnormal systemic blood pressure0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndrome220
HP:0030972HP:0030972Abnormal systemic blood pressure0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0030972HP:0030972Abnormal systemic blood pressure0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndrome79
HP:0030972HP:0030972Abnormal systemic blood pressure0NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized79
HP:0030972HP:0030972Abnormal systemic blood pressure0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0030972HP:0030972Abnormal systemic blood pressure0NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant109
HP:0030972HP:0030972Abnormal systemic blood pressure0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0030972HP:0030972Abnormal systemic blood pressure0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0030972HP:0030972Abnormal systemic blood pressure0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0030972HP:0030972Abnormal systemic blood pressure0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0030972HP:0030972Abnormal systemic blood pressure0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0030972HP:0030972Abnormal systemic blood pressure0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0030972HP:0030972Abnormal systemic blood pressure0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0030972HP:0030972Abnormal systemic blood pressure0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0030972HP:0030972Abnormal systemic blood pressure0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0030972HP:0030972Abnormal systemic blood pressure0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0030972HP:0030972Abnormal systemic blood pressure0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0030972HP:0030972Abnormal systemic blood pressure0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0030972HP:0030972Abnormal systemic blood pressure0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemia178
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndrome9
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome9
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:0030972HP:0030972Abnormal systemic blood pressure0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0030972HP:0030972Abnormal systemic blood pressure0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndrome2
HP:0030972HP:0030972Abnormal systemic blood pressure0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0030972HP:0030972Abnormal systemic blood pressure0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency6
HP:0030972HP:0030972Abnormal systemic blood pressure0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0030972HP:0030972Abnormal systemic blood pressure0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys342
HP:0030972HP:0030972Abnormal systemic blood pressure0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0030972HP:0030972Abnormal systemic blood pressure0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0030972HP:0030972Abnormal systemic blood pressure0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0030972HP:0030972Abnormal systemic blood pressure0PKHD1 CL E G H53149016ORPHA:53035Caroli disease563
HP:0030972HP:0030972Abnormal systemic blood pressure0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0030972HP:0030972Abnormal systemic blood pressure0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0030972HP:0030972Abnormal systemic blood pressure0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0030972HP:0030972Abnormal systemic blood pressure0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0030972HP:0030972Abnormal systemic blood pressure0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0030972HP:0030972Abnormal systemic blood pressure0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0030972HP:0030972Abnormal systemic blood pressure0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0030972HP:0030972Abnormal systemic blood pressure0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0030972HP:0030972Abnormal systemic blood pressure0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0030972HP:0030972Abnormal systemic blood pressure0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0030972HP:0030972Abnormal systemic blood pressure0PRIM1 CL E G H55579369OMIM:620005
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 42
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0030972HP:0030972Abnormal systemic blood pressure0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0030972HP:0030972Abnormal systemic blood pressure0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0030972HP:0030972Abnormal systemic blood pressure0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0030972HP:0030972Abnormal systemic blood pressure0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitis
HP:0030972HP:0030972Abnormal systemic blood pressure0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0030972HP:0030972Abnormal systemic blood pressure0PTGIS CL E G H57409603OMIM:145500Hypertension, essential3
HP:0030972HP:0030972Abnormal systemic blood pressure0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitis3
HP:0030972HP:0030972Abnormal systemic blood pressure0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0030972HP:0030972Abnormal systemic blood pressure0REN CL E G H59729958OMIM:267430Renal tubular dysgenesis25
HP:0030972HP:0030972Abnormal systemic blood pressure0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0030972HP:0030972Abnormal systemic blood pressure0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0030972HP:0030972Abnormal systemic blood pressure0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0030972HP:0030972Abnormal systemic blood pressure0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0030972HP:0030972Abnormal systemic blood pressure0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0030972HP:0030972Abnormal systemic blood pressure0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0030972HP:0030972Abnormal systemic blood pressure0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030972HP:0030972Abnormal systemic blood pressure0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0030972HP:0030972Abnormal systemic blood pressure0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0030972HP:0030972Abnormal systemic blood pressure0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0030972HP:0030972Abnormal systemic blood pressure0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0030972HP:0030972Abnormal systemic blood pressure0SAA1 CL E G H628810513ORPHA:85445AA amyloidosis2
HP:0030972HP:0030972Abnormal systemic blood pressure0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1A CL E G H633710599ORPHA:526Liddle syndrome67
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 367
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive67
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1B CL E G H633810600ORPHA:526Liddle syndrome61
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1G CL E G H634010602ORPHA:526Liddle syndrome57
HP:0030972HP:0030972Abnormal systemic blood pressure0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0030972HP:0030972Abnormal systemic blood pressure0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0030972HP:0030972Abnormal systemic blood pressure0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndrome61
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0030972HP:0030972Abnormal systemic blood pressure0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0030972HP:0030972Abnormal systemic blood pressure0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0030972HP:0030972Abnormal systemic blood pressure0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 164
HP:0030972HP:0030972Abnormal systemic blood pressure0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndrome51
HP:0030972HP:0030972Abnormal systemic blood pressure0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndrome33
HP:0030972HP:0030972Abnormal systemic blood pressure0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 14
HP:0030972HP:0030972Abnormal systemic blood pressure0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0030972HP:0030972Abnormal systemic blood pressure0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0030972HP:0030972Abnormal systemic blood pressure0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection7
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection260
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection504
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0030972HP:0030972Abnormal systemic blood pressure0SMAD6 CL E G H40916772ORPHA:402075Familial bicuspid aortic valve33
HP:0030972HP:0030972Abnormal systemic blood pressure0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0030972HP:0030972Abnormal systemic blood pressure0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0030972HP:0030972Abnormal systemic blood pressure0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0030972HP:0030972Abnormal systemic blood pressure0SNCA CL E G H662211138OMIM:605543Parkinson disease 465
HP:0030972HP:0030972Abnormal systemic blood pressure0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0030972HP:0030972Abnormal systemic blood pressure0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0030972HP:0030972Abnormal systemic blood pressure0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0030972HP:0030972Abnormal systemic blood pressure0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0030972HP:0030972Abnormal systemic blood pressure0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0030972HP:0030972Abnormal systemic blood pressure0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0030972HP:0030972Abnormal systemic blood pressure0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm1
HP:0030972HP:0030972Abnormal systemic blood pressure0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0030972HP:0030972Abnormal systemic blood pressure0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0030972HP:0030972Abnormal systemic blood pressure0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0030972HP:0030972Abnormal systemic blood pressure0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 22
HP:0030972HP:0030972Abnormal systemic blood pressure0STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0030972HP:0030972Abnormal systemic blood pressure0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III8
HP:0030972HP:0030972Abnormal systemic blood pressure0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0030972HP:0030972Abnormal systemic blood pressure0TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiency57
HP:0030972HP:0030972Abnormal systemic blood pressure0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0030972HP:0030972Abnormal systemic blood pressure0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0030972HP:0030972Abnormal systemic blood pressure0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0030972HP:0030972Abnormal systemic blood pressure0TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0030972HP:0030972Abnormal systemic blood pressure0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0030972HP:0030972Abnormal systemic blood pressure0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm3
HP:0030972HP:0030972Abnormal systemic blood pressure0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection162
HP:0030972HP:0030972Abnormal systemic blood pressure0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection85
HP:0030972HP:0030972Abnormal systemic blood pressure0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection239
HP:0030972HP:0030972Abnormal systemic blood pressure0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection253
HP:0030972HP:0030972Abnormal systemic blood pressure0TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysm1
HP:0030972HP:0030972Abnormal systemic blood pressure0THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 660
HP:0030972HP:0030972Abnormal systemic blood pressure0THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysm2
HP:0030972HP:0030972Abnormal systemic blood pressure0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0030972HP:0030972Abnormal systemic blood pressure0TLR7 CL E G H5128415631OMIM:301080
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0030972HP:0030972Abnormal systemic blood pressure0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0030972HP:0030972Abnormal systemic blood pressure0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget disease72
HP:0030972HP:0030972Abnormal systemic blood pressure0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget disease44
HP:0030972HP:0030972Abnormal systemic blood pressure0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0030972HP:0030972Abnormal systemic blood pressure0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0030972HP:0030972Abnormal systemic blood pressure0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0030972HP:0030972Abnormal systemic blood pressure0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0030972HP:0030972Abnormal systemic blood pressure0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndrome6
HP:0030972HP:0030972Abnormal systemic blood pressure0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations56
HP:0030972HP:0030972Abnormal systemic blood pressure0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0030972HP:0030972Abnormal systemic blood pressure0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0030972HP:0030972Abnormal systemic blood pressure0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0030972Abnormal systemic blood pressure0TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2107
HP:0030972HP:0030972Abnormal systemic blood pressure0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0030972HP:0030972Abnormal systemic blood pressure0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0030972HP:0030972Abnormal systemic blood pressure0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030972HP:0030972Abnormal systemic blood pressure0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0030972HP:0030972Abnormal systemic blood pressure0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0030972HP:0030972Abnormal systemic blood pressure0TULP3 CL E G H728912425OMIM:619902
HP:0030972HP:0030972Abnormal systemic blood pressure0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0030972HP:0030972Abnormal systemic blood pressure0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0030972HP:0030972Abnormal systemic blood pressure0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0030972HP:0030972Abnormal systemic blood pressure0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0030972HP:0030972Abnormal systemic blood pressure0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0030972HP:0030972Abnormal systemic blood pressure0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0030972HP:0030972Abnormal systemic blood pressure0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0030972HP:0030972Abnormal systemic blood pressure0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0030972HP:0030972Abnormal systemic blood pressure0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0030972HP:0030972Abnormal systemic blood pressure0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0030972HP:0030972Abnormal systemic blood pressure0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndrome95
HP:0030972HP:0030972Abnormal systemic blood pressure0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0030972HP:0030972Abnormal systemic blood pressure0WNK1 CL E G H6512514540OMIM:614492Pseudohypoaldosteronism, type IIC199
HP:0030972HP:0030972Abnormal systemic blood pressure0WNK4 CL E G H6526614544OMIM:614491Pseudohypoaldosteronism, type IIB71
HP:0030972HP:0030972Abnormal systemic blood pressure0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0030972HP:0030972Abnormal systemic blood pressure0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome177
HP:0030972HP:0030972Abnormal systemic blood pressure0WT1 CL E G H749012796ORPHA:220Denys-Drash syndrome177
HP:0030972HP:0030972Abnormal systemic blood pressure0WT1 CL E G H749012796ORPHA:347Frasier syndrome177
HP:0030972HP:0030972Abnormal systemic blood pressure0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0030972HP:0030972Abnormal systemic blood pressure0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0030972HP:0030972Abnormal systemic blood pressure0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0030972HP:0030972Abnormal systemic blood pressure0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0030972HP:0030972Abnormal systemic blood pressure0YY1AP1 CL E G H5524930935ORPHA:79094Grange syndrome5
HP:0030972HP:0030972Abnormal systemic blood pressure0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0030972HP:0030972Abnormal systemic blood pressure0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0030972HP:0030972Abnormal systemic blood pressure0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0030972HP:0030972Abnormal systemic blood pressure0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0030972HP:0020141Blood pressure substantially higher in legs than arms1 CL E G H
HP:0030972HP:0020142Blood pressure substantially higher in arms than legs1 CL E G H
HP:0030972HP:0002615Hypotension1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0030972HP:0002615Hypotension1ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional147
HP:0030972HP:0032263Increased blood pressure1ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasis111
HP:0030972HP:0032263Increased blood pressure1ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemia20
HP:0030972HP:0032263Increased blood pressure1ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2415
HP:0030972HP:0032263Increased blood pressure1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0030972HP:0032263Increased blood pressure1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0030972HP:0032263Increased blood pressure1ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0030972HP:0032263Increased blood pressure1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0030972HP:0032263Increased blood pressure1ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemia67
HP:0030972HP:0032263Increased blood pressure1ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemia76
HP:0030972HP:0032263Increased blood pressure1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0030972HP:0002615Hypotension1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0030972HP:0002615Hypotension1ACE CL E G H16362707OMIM:267430Renal tubular dysgenesis.113
HP:0030972HP:0032263Increased blood pressure1ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0030972HP:0032263Increased blood pressure1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection94
HP:0030972HP:0032263Increased blood pressure1ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0030972HP:0032263Increased blood pressure1ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0030972HP:0032263Increased blood pressure1ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0030972HP:0032263Increased blood pressure1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0030972HP:0032263Increased blood pressure1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0030972HP:0032263Increased blood pressure1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0030972HP:0032263Increased blood pressure1ADA2 CL E G H518161839ORPHA:820Sneddon syndrome22
HP:0030972HP:0032263Increased blood pressure1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0030972HP:0032263Increased blood pressure1ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentis84
HP:0030972HP:0032263Increased blood pressure1ADD1 CL E G H118243OMIM:145500Hypertension, essential1
HP:0030972HP:0032263Increased blood pressure1AGT CL E G H183333OMIM:145500Hypertension, essential48
HP:0030972HP:0002615Hypotension1AGT CL E G H183333OMIM:267430Renal tubular dysgenesis.48
HP:0030972HP:0032263Increased blood pressure1AGTR1 CL E G H185336OMIM:145500Hypertension, essential33
HP:0030972HP:0002615Hypotension1AGTR1 CL E G H185336OMIM:267430Renal tubular dysgenesis.33
HP:0030972HP:0032263Increased blood pressure1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0030972HP:0032263Increased blood pressure1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0030972HP:0032263Increased blood pressure1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0030972HP:0002615Hypotension1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0030972HP:0002615Hypotension1ALB CL E G H213399OMIM:616000Analbuminemia.104
HP:0030972HP:0032263Increased blood pressure1ALG5 CL E G H2988020266OMIM:620056
HP:0030972HP:0032263Increased blood pressure1ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0030972HP:0032263Increased blood pressure1ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0030972HP:0032263Increased blood pressure1ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0030972HP:0032263Increased blood pressure1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0030972HP:0032263Increased blood pressure1ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndrome132
HP:0030972HP:0032263Increased blood pressure1ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysm
HP:0030972HP:0032263Increased blood pressure1APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral40
HP:0030972HP:0032263Increased blood pressure1APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemia356
HP:0030972HP:0032263Increased blood pressure1APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiency19
HP:0030972HP:0032263Increased blood pressure1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0030972HP:0032263Increased blood pressure1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0030972HP:0032263Increased blood pressure1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0030972HP:0032263Increased blood pressure1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0030972HP:0032263Increased blood pressure1ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 27
HP:0030972HP:0032263Increased blood pressure1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0030972HP:0002615Hypotension1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0030972HP:0032263Increased blood pressure1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0030972HP:0032263Increased blood pressure1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0030972HP:0002615Hypotension1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0030972HP:0002615Hypotension1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0030972HP:0002615Hypotension1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0030972HP:0032263Increased blood pressure1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0030972HP:0002615Hypotension1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0030972HP:0032263Increased blood pressure1AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0030972HP:0032263Increased blood pressure1B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral8
HP:0030972HP:0032263Increased blood pressure1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0032263Increased blood pressure1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0030972HP:0032263Increased blood pressure1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0030972HP:0032263Increased blood pressure1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0030972HP:0032263Increased blood pressure1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0030972HP:0032263Increased blood pressure1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0030972HP:0032263Increased blood pressure1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0030972HP:0032263Increased blood pressure1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0030972HP:0032263Increased blood pressure1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0030972HP:0032263Increased blood pressure1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0030972HP:0032263Increased blood pressure1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0030972HP:0032263Increased blood pressure1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0030972HP:0032263Increased blood pressure1BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0030972HP:0032263Increased blood pressure1BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valve22
HP:0030972HP:0032263Increased blood pressure1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0030972HP:0032263Increased blood pressure1BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0030972HP:0032263Increased blood pressure1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0030972HP:0032263Increased blood pressure1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0030972HP:0032263Increased blood pressure1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0030972HP:0032263Increased blood pressure1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0030972HP:0032263Increased blood pressure1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0030972HP:0032263Increased blood pressure1CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0030972HP:0032263Increased blood pressure1CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV75
HP:0030972HP:0032263Increased blood pressure1CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0030972HP:0032263Increased blood pressure1CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0030972HP:0002615Hypotension1CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0030972HP:0032263Increased blood pressure1CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0030972HP:0032263Increased blood pressure1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0030972HP:0002615Hypotension1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0030972HP:0032263Increased blood pressure1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0030972HP:0002615Hypotension1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0030972HP:0032263Increased blood pressure1CBS CL E G H8751550ORPHA:394Classic homocystinuria242
HP:0030972HP:0032263Increased blood pressure1CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0030972HP:0032263Increased blood pressure1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0030972HP:0032263Increased blood pressure1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0030972HP:0032263Increased blood pressure1CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0032263Increased blood pressure1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0030972HP:0032263Increased blood pressure1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0030972HP:0032263Increased blood pressure1CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0032263Increased blood pressure1CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0030972HP:0002615Hypotension1CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040283 - Occasional39
HP:0030972HP:0032263Increased blood pressure1CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 239
HP:0030972HP:0032263Increased blood pressure1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0030972HP:0002615Hypotension1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0030972HP:0032263Increased blood pressure1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0030972HP:0002615Hypotension1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0030972HP:0032263Increased blood pressure1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0030972HP:0032263Increased blood pressure1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0030972HP:0032263Increased blood pressure1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0030972HP:0032263Increased blood pressure1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0030972HP:0032263Increased blood pressure1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0030972HP:0032263Increased blood pressure1CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0030972HP:0032263Increased blood pressure1CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndrome34
HP:0030972HP:0032263Increased blood pressure1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0032263Increased blood pressure1CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0030972HP:0032263Increased blood pressure1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0030972HP:0032263Increased blood pressure1CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndrome342
HP:0030972HP:0032263Increased blood pressure1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0030972HP:0032263Increased blood pressure1CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 430
HP:0030972HP:0002615Hypotension1CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040283 - Occasional86
HP:0030972HP:0032263Increased blood pressure1CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0030972HP:0032263Increased blood pressure1CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0030972HP:0032263Increased blood pressure1CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0030972HP:0002615Hypotension1CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040283 - Occasional57
HP:0030972HP:0032263Increased blood pressure1CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 357
HP:0030972HP:0002615Hypotension1CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant3
HP:0030972HP:0002615Hypotension1CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0030972HP:0032263Increased blood pressure1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0030972HP:0032263Increased blood pressure1CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0030972HP:0032263Increased blood pressure1CLCN2 CL E G H11812020OMIM:605635Hyperaldosteronism, familial, type II44
HP:0030972HP:0002615Hypotension1CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0030972HP:0002615Hypotension1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0030972HP:0032263Increased blood pressure1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0030972HP:0032263Increased blood pressure1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0030972HP:0002615Hypotension1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0030972HP:0032263Increased blood pressure1COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysm749
HP:0030972HP:0032263Increased blood pressure1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0030972HP:0032263Increased blood pressure1COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant161
HP:0030972HP:0032263Increased blood pressure1COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive161
HP:0030972HP:0032263Increased blood pressure1COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive174
HP:0030972HP:0032263Increased blood pressure1COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked678
HP:0030972HP:0002615Hypotension1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0030972HP:0002615Hypotension1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0030972HP:0032263Increased blood pressure1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0030972HP:0002615Hypotension1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0030972HP:0002615Hypotension1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0030972HP:0002615Hypotension1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0030972HP:0032263Increased blood pressure1COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0030972HP:0032263Increased blood pressure1CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0030972HP:0032263Increased blood pressure1COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0030972HP:0032263Increased blood pressure1CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitis10
HP:0030972HP:0032263Increased blood pressure1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0030972HP:0032263Increased blood pressure1CUL3 CL E G H84522553OMIM:614496Pseudohypoaldosteronism, type IIE92
HP:0030972HP:0002615Hypotension1CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2
HP:0030972HP:0002615Hypotension1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0030972HP:0002615Hypotension1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0030972HP:0032263Increased blood pressure1CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0030972HP:0032263Increased blood pressure1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0030972HP:0032263Increased blood pressure1CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0030972HP:0032263Increased blood pressure1CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0030972HP:0002615Hypotension1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0030972HP:0002615Hypotension1CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040281 - Very frequent73
HP:0030972HP:0032263Increased blood pressure1CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0030972HP:0002615Hypotension1CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0030972HP:0032263Increased blood pressure1CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency53
HP:0030972HP:0032263Increased blood pressure1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0030972HP:0032263Increased blood pressure1CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency86
HP:0030972HP:0032263Increased blood pressure1CYP3A5 CL E G H15772638OMIM:145500Hypertension, essential2
HP:0030972HP:0032263Increased blood pressure1CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0002615Hypotension1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0030972HP:0002615Hypotension1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0030972HP:0002615Hypotension1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0030972HP:0032263Increased blood pressure1DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0030972HP:0032263Increased blood pressure1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0030972HP:0002615Hypotension1DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040283 - Occasional86
HP:0030972HP:0002615Hypotension1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0030972HP:0032263Increased blood pressure1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030972HP:0032263Increased blood pressure1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0030972HP:0032263Increased blood pressure1DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic57
HP:0030972HP:0032263Increased blood pressure1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0030972HP:0032263Increased blood pressure1DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0030972HP:0032263Increased blood pressure1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0030972HP:0032263Increased blood pressure1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0030972HP:0032263Increased blood pressure1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0032263Increased blood pressure1DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0030972HP:0032263Increased blood pressure1DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease
HP:0030972HP:0002615Hypotension1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0032263Increased blood pressure1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0030972HP:0032263Increased blood pressure1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0030972HP:0032263Increased blood pressure1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0030972HP:0032263Increased blood pressure1DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 37
HP:0030972HP:0032263Increased blood pressure1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0030972HP:0032263Increased blood pressure1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0030972HP:0032263Increased blood pressure1ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction13
HP:0030972HP:0032263Increased blood pressure1ECE1 CL E G H18893146OMIM:145500Hypertension, essential13
HP:0030972HP:0032263Increased blood pressure1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0030972HP:0032263Increased blood pressure1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0030972HP:0032263Increased blood pressure1EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2257
HP:0030972HP:0002615Hypotension1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0032263Increased blood pressure1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection172
HP:0030972HP:0032263Increased blood pressure1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0030972HP:0032263Increased blood pressure1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030972HP:0002615Hypotension1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0030972HP:0032263Increased blood pressure1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0030972HP:0002615Hypotension1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0030972HP:0032263Increased blood pressure1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0030972HP:0032263Increased blood pressure1ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysm186
HP:0030972HP:0032263Increased blood pressure1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0030972HP:0032263Increased blood pressure1ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1151
HP:0030972HP:0032263Increased blood pressure1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0030972HP:0032263Increased blood pressure1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0030972HP:0032263Increased blood pressure1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0030972HP:0032263Increased blood pressure1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0030972HP:0032263Increased blood pressure1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0030972HP:0032263Increased blood pressure1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0030972HP:0032263Increased blood pressure1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0030972HP:0032263Increased blood pressure1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0030972HP:0032263Increased blood pressure1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0030972HP:0032263Increased blood pressure1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0030972HP:0032263Increased blood pressure1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0030972HP:0032263Increased blood pressure1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0030972HP:0032263Increased blood pressure1EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndrome102
HP:0030972HP:0032263Increased blood pressure1F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0030972HP:0032263Increased blood pressure1FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0030972HP:0032263Increased blood pressure1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection1361
HP:0030972HP:0032263Increased blood pressure1FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentis1361
HP:0030972HP:0032263Increased blood pressure1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0030972HP:0032263Increased blood pressure1FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0030972HP:0032263Increased blood pressure1FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral47
HP:0030972HP:0032263Increased blood pressure1FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0030972HP:0032263Increased blood pressure1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0030972HP:0032263Increased blood pressure1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0030972HP:0032263Increased blood pressure1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0030972HP:0032263Increased blood pressure1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0030972HP:0032263Increased blood pressure1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0030972HP:0032263Increased blood pressure1FMO3 CL E G H23283771OMIM:602079Trimethylaminuria55
HP:0030972HP:0032263Increased blood pressure1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0030972HP:0002615Hypotension1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0030972HP:0032263Increased blood pressure1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0030972HP:0032263Increased blood pressure1FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathy9
HP:0030972HP:0032263Increased blood pressure1FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 29
HP:0030972HP:0002615Hypotension1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0030972HP:0032263Increased blood pressure1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection23
HP:0030972HP:0032263Increased blood pressure1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0030972HP:0032263Increased blood pressure1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0030972HP:0032263Increased blood pressure1GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0030972HP:0032263Increased blood pressure1GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 36
HP:0030972HP:0032263Increased blood pressure1GATA5 CL E G H14062815802ORPHA:402075Familial bicuspid aortic valve10
HP:0030972HP:0032263Increased blood pressure1GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0030972HP:0002615Hypotension1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0030972HP:0032263Increased blood pressure1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0030972HP:0002615Hypotension1GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0030972HP:0032263Increased blood pressure1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0030972HP:0032263Increased blood pressure1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0030972HP:0032263Increased blood pressure1GDF2 CL E G H26584217OMIM:615506TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT58
HP:0030972HP:0032263Increased blood pressure1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0030972HP:0002615Hypotension1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0030972HP:0032263Increased blood pressure1GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0030972HP:0032263Increased blood pressure1GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 368
HP:0030972HP:0032263Increased blood pressure1GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0030972HP:0032263Increased blood pressure1GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0030972HP:0002615Hypotension1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0030972HP:0032263Increased blood pressure1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0030972HP:0002615Hypotension1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0030972HP:0002615Hypotension1GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0030972HP:0032263Increased blood pressure1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0030972HP:0032263Increased blood pressure1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0030972HP:0032263Increased blood pressure1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0030972HP:0032263Increased blood pressure1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030972HP:0032263Increased blood pressure1GNB3 CL E G H27844400OMIM:145500Hypertension, essential5
HP:0030972HP:0032263Increased blood pressure1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0030972HP:0032263Increased blood pressure1GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0030972HP:0032263Increased blood pressure1GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0030972HP:0032263Increased blood pressure1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0030972HP:0002615Hypotension1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0030972HP:0032263Increased blood pressure1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0030972HP:0032263Increased blood pressure1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0030972HP:0032263Increased blood pressure1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0030972HP:0032263Increased blood pressure1GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0030972HP:0032263Increased blood pressure1GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasia
HP:0030972HP:0032263Increased blood pressure1H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0030972HP:0032263Increased blood pressure1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030972HP:0032263Increased blood pressure1HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0030972HP:0002615Hypotension1HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040283 - Occasional
HP:0030972HP:0002615Hypotension1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0030972HP:0002615Hypotension1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0030972HP:0032263Increased blood pressure1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection
HP:0030972HP:0032263Increased blood pressure1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0030972HP:0032263Increased blood pressure1HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0030972HP:0032263Increased blood pressure1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0030972HP:0032263Increased blood pressure1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0030972HP:0032263Increased blood pressure1HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitis
HP:0030972HP:0032263Increased blood pressure1HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitis1
HP:0030972HP:0032263Increased blood pressure1HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0030972HP:0032263Increased blood pressure1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0030972HP:0032263Increased blood pressure1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0030972HP:0032263Increased blood pressure1HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0030972HP:0002615Hypotension1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0030972HP:0032263Increased blood pressure1HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0030972HP:0032263Increased blood pressure1HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndrome9
HP:0030972HP:0032263Increased blood pressure1HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0030972HP:0032263Increased blood pressure1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0030972HP:0002615Hypotension1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0030972HP:0032263Increased blood pressure1HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0030972HP:0032263Increased blood pressure1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0030972HP:0032263Increased blood pressure1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0030972HP:0032263Increased blood pressure1IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0030972HP:0032263Increased blood pressure1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0030972HP:0032263Increased blood pressure1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0030972HP:0032263Increased blood pressure1IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0030972HP:0032263Increased blood pressure1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030972HP:0032263Increased blood pressure1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0030972HP:0032263Increased blood pressure1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0030972HP:0032263Increased blood pressure1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0030972HP:0032263Increased blood pressure1IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0030972HP:0002615Hypotension1IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0030972HP:0002615Hypotension1IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0030972HP:0032263Increased blood pressure1IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0030972HP:0032263Increased blood pressure1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0030972HP:0032263Increased blood pressure1INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0030972HP:0032263Increased blood pressure1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0030972HP:0032263Increased blood pressure1INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0030972HP:0032263Increased blood pressure1INVS CL E G H2713017870ORPHA:3156Senior-Loken syndrome106
HP:0030972HP:0032263Increased blood pressure1IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndrome61
HP:0030972HP:0002615Hypotension1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0030972HP:0032263Increased blood pressure1IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0030972HP:0032263Increased blood pressure1IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0030972HP:0002615Hypotension1IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0030972HP:0032263Increased blood pressure1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0030972HP:0032263Increased blood pressure1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0030972HP:0032263Increased blood pressure1ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 14
HP:0030972HP:0032263Increased blood pressure1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0030972HP:0032263Increased blood pressure1JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0030972HP:0032263Increased blood pressure1JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0030972HP:0032263Increased blood pressure1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0030972HP:0032263Increased blood pressure1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0030972HP:0002615Hypotension1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0030972HP:0032263Increased blood pressure1KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0030972HP:0032263Increased blood pressure1KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III128
HP:0030972HP:0032263Increased blood pressure1KCNMB1 CL E G H37796285OMIM:608622HYPERTENSION, DIASTOLIC, RESISTANCE TO1
HP:0030972HP:0032263Increased blood pressure1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0030972HP:0032263Increased blood pressure1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0030972HP:0032263Increased blood pressure1KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0030972HP:0032263Increased blood pressure1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0030972HP:0032263Increased blood pressure1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0030972HP:0032263Increased blood pressure1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0030972HP:0002615Hypotension1KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0030972HP:0002615Hypotension1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0030972HP:0032263Increased blood pressure1KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID118
HP:0030972HP:0032263Increased blood pressure1KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0030972HP:0002615Hypotension1KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0030972HP:0032263Increased blood pressure1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0030972HP:0032263Increased blood pressure1LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia54
HP:0030972HP:0032263Increased blood pressure1LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0030972HP:0032263Increased blood pressure1LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemia2157
HP:0030972HP:0032263Increased blood pressure1LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemia73
HP:0030972HP:0032263Increased blood pressure1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0030972HP:0032263Increased blood pressure1LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0030972HP:0002615Hypotension1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0030972HP:0002615Hypotension1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0030972HP:0002615Hypotension1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0030972HP:0032263Increased blood pressure1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0030972HP:0032263Increased blood pressure1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0030972HP:0032263Increased blood pressure1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0030972HP:0032263Increased blood pressure1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0030972HP:0032263Increased blood pressure1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0030972HP:0032263Increased blood pressure1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0030972HP:0032263Increased blood pressure1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0030972HP:0002615Hypotension1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0030972HP:0002615Hypotension1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0030972HP:0032263Increased blood pressure1LMX1B CL E G H40106654ORPHA:2613Nail-patella-like renal disease165
HP:0030972HP:0032263Increased blood pressure1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection6
HP:0030972HP:0032263Increased blood pressure1LRIG2 CL E G H986020889ORPHA:2704Ochoa syndrome5
HP:0030972HP:0032263Increased blood pressure1LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 226
HP:0030972HP:0002615Hypotension1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0030972HP:0032263Increased blood pressure1LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral32
HP:0030972HP:0032263Increased blood pressure1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0030972HP:0032263Increased blood pressure1MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0030972HP:0032263Increased blood pressure1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection13
HP:0030972HP:0032263Increased blood pressure1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0030972HP:0032263Increased blood pressure1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0030972HP:0002615Hypotension1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent94
HP:0030972HP:0032263Increased blood pressure1MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiency54
HP:0030972HP:0032263Increased blood pressure1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0030972HP:0032263Increased blood pressure1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0030972HP:0032263Increased blood pressure1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030972HP:0032263Increased blood pressure1MEF2A CL E G H42056993OMIM:608320Coronary artery disease, autosomal dominant, 15
HP:0030972HP:0032263Increased blood pressure1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0030972HP:0002615Hypotension1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0030972HP:0032263Increased blood pressure1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0030972HP:0032263Increased blood pressure1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection11
HP:0030972HP:0032263Increased blood pressure1MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0030972HP:0032263Increased blood pressure1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0030972HP:0032263Increased blood pressure1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0030972HP:0032263Increased blood pressure1MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0030972HP:0032263Increased blood pressure1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0030972HP:0032263Increased blood pressure1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030972HP:0032263Increased blood pressure1MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0030972HP:0002615Hypotension1MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0030972HP:0032263Increased blood pressure1MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0030972HP:0032263Increased blood pressure1MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0030972HP:0032263Increased blood pressure1MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0030972HP:0032263Increased blood pressure1MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0030972HP:0002615Hypotension1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent26
HP:0030972HP:0032263Increased blood pressure1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0030972HP:0032263Increased blood pressure1MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblE88
HP:0030972HP:0032263Increased blood pressure1MTTP CL E G H45477467OMIM:605552Abdominal obesity-metabolic syndrome 181
HP:0030972HP:0002615Hypotension1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0030972HP:0032263Increased blood pressure1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0030972HP:0032263Increased blood pressure1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection418
HP:0030972HP:0032263Increased blood pressure1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0030972HP:0032263Increased blood pressure1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection326
HP:0030972HP:0032263Increased blood pressure1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0030972HP:0032263Increased blood pressure1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0030972HP:0032263Increased blood pressure1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0030972HP:0032263Increased blood pressure1ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0030972HP:0032263Increased blood pressure1NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosis5
HP:0030972HP:0032263Increased blood pressure1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0030972HP:0032263Increased blood pressure1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0030972HP:0032263Increased blood pressure1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0030972HP:0032263Increased blood pressure1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0030972HP:0002615Hypotension1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0030972HP:0032263Increased blood pressure1NKX2-5 CL E G H14822488ORPHA:402075Familial bicuspid aortic valve90
HP:0030972HP:0002615Hypotension1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent13
HP:0030972HP:0032263Increased blood pressure1NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0030972HP:0032263Increased blood pressure1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0030972HP:0032263Increased blood pressure1NOS3 CL E G H48467876OMIM:145500Hypertension, essential8
HP:0030972HP:0032263Increased blood pressure1NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 18
HP:0030972HP:0032263Increased blood pressure1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0030972HP:0032263Increased blood pressure1NOTCH1 CL E G H48517881ORPHA:402075Familial bicuspid aortic valve452
HP:0030972HP:0032263Increased blood pressure1NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0030972HP:0032263Increased blood pressure1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0030972HP:0032263Increased blood pressure1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0030972HP:0032263Increased blood pressure1NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0030972HP:0032263Increased blood pressure1NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndrome85
HP:0030972HP:0032263Increased blood pressure1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0030972HP:0032263Increased blood pressure1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0030972HP:0032263Increased blood pressure1NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndrome157
HP:0030972HP:0032263Increased blood pressure1NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndrome220
HP:0030972HP:0032263Increased blood pressure1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0030972HP:0032263Increased blood pressure1NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndrome79
HP:0030972HP:0032263Increased blood pressure1NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized79
HP:0030972HP:0032263Increased blood pressure1NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0030972HP:0002615Hypotension1NR3C2 CL E G H43067979OMIM:177735Pseudohypoaldosteronism, type I, autosomal dominant.109
HP:0030972HP:0032263Increased blood pressure1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0030972HP:0032263Increased blood pressure1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0030972HP:0002615Hypotension1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0030972HP:0002615Hypotension1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0030972HP:0032263Increased blood pressure1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0030972HP:0032263Increased blood pressure1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0030972HP:0032263Increased blood pressure1OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0030972HP:0002615Hypotension1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0030972HP:0032263Increased blood pressure1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0030972HP:0032263Increased blood pressure1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0030972HP:0032263Increased blood pressure1PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0030972HP:0032263Increased blood pressure1PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0030972HP:0032263Increased blood pressure1PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemia178
HP:0030972HP:0032263Increased blood pressure1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030972HP:0032263Increased blood pressure1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0030972HP:0032263Increased blood pressure1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0030972HP:0032263Increased blood pressure1PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndrome9
HP:0030972HP:0032263Increased blood pressure1PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome9
HP:0030972HP:0002615Hypotension1PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0030972HP:0032263Increased blood pressure1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0030972HP:0032263Increased blood pressure1PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndrome2
HP:0030972HP:0032263Increased blood pressure1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0030972HP:0032263Increased blood pressure1PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency6
HP:0030972HP:0032263Increased blood pressure1PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0030972HP:0032263Increased blood pressure1PKD1 CL E G H53109008OMIM:173900Polycystic kidneys342
HP:0030972HP:0032263Increased blood pressure1PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0030972HP:0032263Increased blood pressure1PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0030972HP:0032263Increased blood pressure1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0030972HP:0032263Increased blood pressure1PKHD1 CL E G H53149016ORPHA:53035Caroli disease563
HP:0030972HP:0032263Increased blood pressure1PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0030972HP:0032263Increased blood pressure1PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0030972HP:0032263Increased blood pressure1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0030972HP:0032263Increased blood pressure1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0030972HP:0002615Hypotension1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0030972HP:0032263Increased blood pressure1POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0030972HP:0002615Hypotension1POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0030972HP:0032263Increased blood pressure1POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0030972HP:0032263Increased blood pressure1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0030972HP:0032263Increased blood pressure1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0030972HP:0032263Increased blood pressure1PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0030972HP:0032263Increased blood pressure1PRIM1 CL E G H55579369OMIM:620005
HP:0030972HP:0032263Increased blood pressure1PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 42
HP:0030972HP:0032263Increased blood pressure1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0030972HP:0002615Hypotension1PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0030972HP:0032263Increased blood pressure1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0030972HP:0032263Increased blood pressure1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030972HP:0032263Increased blood pressure1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0030972HP:0032263Increased blood pressure1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0030972HP:0032263Increased blood pressure1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection41
HP:0030972HP:0002615Hypotension1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0030972HP:0002615Hypotension1PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0030972HP:0032263Increased blood pressure1PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitis
HP:0030972HP:0002615Hypotension1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0030972HP:0032263Increased blood pressure1PTGIS CL E G H57409603OMIM:145500Hypertension, essential3
HP:0030972HP:0032263Increased blood pressure1PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitis3
HP:0030972HP:0032263Increased blood pressure1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0030972HP:0002615Hypotension1REN CL E G H59729958OMIM:267430Renal tubular dysgenesis.25
HP:0030972HP:0032263Increased blood pressure1REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0030972HP:0032263Increased blood pressure1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0030972HP:0032263Increased blood pressure1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0030972HP:0032263Increased blood pressure1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0030972HP:0032263Increased blood pressure1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0030972HP:0032263Increased blood pressure1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0030972HP:0032263Increased blood pressure1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030972HP:0032263Increased blood pressure1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0030972HP:0032263Increased blood pressure1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0032263Increased blood pressure1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0030972HP:0002615Hypotension1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0030972HP:0002615Hypotension1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0030972HP:0002615Hypotension1RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0030972HP:0002615Hypotension1SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040281 - Very frequent2
HP:0030972HP:0032263Increased blood pressure1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0030972HP:0032263Increased blood pressure1SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0030972HP:0032263Increased blood pressure1SCNN1A CL E G H633710599ORPHA:526Liddle syndrome67
HP:0030972HP:0032263Increased blood pressure1SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 367
HP:0030972HP:0002615Hypotension1SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0030972HP:0032263Increased blood pressure1SCNN1B CL E G H633810600ORPHA:526Liddle syndrome61
HP:0030972HP:0032263Increased blood pressure1SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0030972HP:0032263Increased blood pressure1SCNN1G CL E G H634010602ORPHA:526Liddle syndrome57
HP:0030972HP:0032263Increased blood pressure1SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0030972HP:0032263Increased blood pressure1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0030972HP:0032263Increased blood pressure1SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndrome61
HP:0030972HP:0032263Increased blood pressure1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0030972HP:0032263Increased blood pressure1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0030972HP:0032263Increased blood pressure1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0030972HP:0032263Increased blood pressure1SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0030972HP:0032263Increased blood pressure1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0030972HP:0032263Increased blood pressure1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0030972HP:0032263Increased blood pressure1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0030972HP:0032263Increased blood pressure1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0030972HP:0032263Increased blood pressure1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0030972HP:0032263Increased blood pressure1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0030972HP:0032263Increased blood pressure1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0030972HP:0032263Increased blood pressure1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0030972HP:0032263Increased blood pressure1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0032263Increased blood pressure1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0030972HP:0032263Increased blood pressure1SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0030972HP:0002615Hypotension1SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0030972HP:0002615Hypotension1SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040283 - Occasional64
HP:0030972HP:0002615Hypotension1SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional51
HP:0030972HP:0002615Hypotension1SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional33
HP:0030972HP:0032263Increased blood pressure1SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 14
HP:0030972HP:0032263Increased blood pressure1SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0030972HP:0002615Hypotension1SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0030972HP:0002615Hypotension1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0030972HP:0002615Hypotension1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0030972HP:0002615Hypotension1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0030972HP:0032263Increased blood pressure1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0032263Increased blood pressure1SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0030972HP:0002615Hypotension1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0030972HP:0002615Hypotension1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0030972HP:0032263Increased blood pressure1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0030972HP:0032263Increased blood pressure1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0030972HP:0032263Increased blood pressure1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0030972HP:0032263Increased blood pressure1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0030972HP:0032263Increased blood pressure1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0030972HP:0032263Increased blood pressure1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0030972HP:0032263Increased blood pressure1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0030972HP:0032263Increased blood pressure1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0030972HP:0032263Increased blood pressure1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection7
HP:0030972HP:0032263Increased blood pressure1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection260
HP:0030972HP:0032263Increased blood pressure1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection504
HP:0030972HP:0032263Increased blood pressure1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0030972HP:0032263Increased blood pressure1SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0030972HP:0032263Increased blood pressure1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0030972HP:0032263Increased blood pressure1SMAD6 CL E G H40916772ORPHA:402075Familial bicuspid aortic valve33
HP:0030972HP:0032263Increased blood pressure1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0030972HP:0032263Increased blood pressure1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0030972HP:0002615Hypotension1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0030972HP:0002615Hypotension1SNCA CL E G H662211138OMIM:605543Parkinson disease 465
HP:0030972HP:0032263Increased blood pressure1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0030972HP:0002615Hypotension1SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0030972HP:0032263Increased blood pressure1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0030972HP:0002615Hypotension1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0030972HP:0002615Hypotension1SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0030972HP:0032263Increased blood pressure1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0030972HP:0002615Hypotension1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0030972HP:0002615Hypotension1SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0030972HP:0002615Hypotension1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent45
HP:0030972HP:0032263Increased blood pressure1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0030972HP:0032263Increased blood pressure1STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0030972HP:0032263Increased blood pressure1STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 22
HP:0030972HP:0032263Increased blood pressure1STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0030972HP:0032263Increased blood pressure1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III8
HP:0030972HP:0032263Increased blood pressure1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0030972HP:0002615Hypotension1TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiencyHP:0040281 - Very frequent57
HP:0030972HP:0032263Increased blood pressure1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0030972HP:0032263Increased blood pressure1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0030972HP:0002615Hypotension1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0030972HP:0032263Increased blood pressure1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0030972HP:0032263Increased blood pressure1TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0030972HP:0032263Increased blood pressure1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0030972HP:0002615Hypotension1TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0030972HP:0032263Increased blood pressure1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection162
HP:0030972HP:0032263Increased blood pressure1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection85
HP:0030972HP:0032263Increased blood pressure1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection239
HP:0030972HP:0032263Increased blood pressure1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissection253
HP:0030972HP:0032263Increased blood pressure1TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysm1
HP:0030972HP:0032263Increased blood pressure1THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 660
HP:0030972HP:0032263Increased blood pressure1THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysm2
HP:0030972HP:0032263Increased blood pressure1TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0030972HP:0032263Increased blood pressure1TLR7 CL E G H5128415631OMIM:301080
HP:0030972HP:0032263Increased blood pressure1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0030972HP:0032263Increased blood pressure1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0030972HP:0032263Increased blood pressure1TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0030972HP:0032263Increased blood pressure1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0030972HP:0032263Increased blood pressure1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0030972HP:0032263Increased blood pressure1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0030972HP:0032263Increased blood pressure1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0030972HP:0032263Increased blood pressure1TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget disease72
HP:0030972HP:0032263Increased blood pressure1TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget disease44
HP:0030972HP:0002615Hypotension1TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0030972HP:0032263Increased blood pressure1TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0030972HP:0002615Hypotension1TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0030972HP:0032263Increased blood pressure1TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0030972HP:0032263Increased blood pressure1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030972HP:0032263Increased blood pressure1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0030972HP:0032263Increased blood pressure1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0030972HP:0032263Increased blood pressure1TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndrome6
HP:0030972HP:0032263Increased blood pressure1TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations56
HP:0030972HP:0032263Increased blood pressure1TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0030972HP:0032263Increased blood pressure1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0030972HP:0032263Increased blood pressure1TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0030972HP:0032263Increased blood pressure1TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0032263Increased blood pressure1TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0032263Increased blood pressure1TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0030972HP:0032263Increased blood pressure1TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafness
HP:0030972HP:0032263Increased blood pressure1TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0030972HP:0032263Increased blood pressure1TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2107
HP:0030972HP:0032263Increased blood pressure1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0030972HP:0032263Increased blood pressure1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0030972HP:0032263Increased blood pressure1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030972HP:0032263Increased blood pressure1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0030972HP:0002615Hypotension1TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0030972HP:0032263Increased blood pressure1TULP3 CL E G H728912425OMIM:619902
HP:0030972HP:0002615Hypotension1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent85
HP:0030972HP:0032263Increased blood pressure1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0032263Increased blood pressure1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0030972HP:0032263Increased blood pressure1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0030972HP:0032263Increased blood pressure1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0030972HP:0032263Increased blood pressure1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0030972HP:0032263Increased blood pressure1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0030972HP:0002615Hypotension1VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0030972HP:0032263Increased blood pressure1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0030972HP:0032263Increased blood pressure1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0030972HP:0032263Increased blood pressure1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0030972HP:0032263Increased blood pressure1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0030972HP:0032263Increased blood pressure1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0030972HP:0002615Hypotension1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0030972HP:0032263Increased blood pressure1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0030972HP:0032263Increased blood pressure1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0030972HP:0032263Increased blood pressure1WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndrome95
HP:0030972HP:0032263Increased blood pressure1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0030972HP:0032263Increased blood pressure1WNK1 CL E G H6512514540OMIM:614492Pseudohypoaldosteronism, type IIC199
HP:0030972HP:0032263Increased blood pressure1WNK4 CL E G H6526614544OMIM:614491Pseudohypoaldosteronism, type IIB71
HP:0030972HP:0032263Increased blood pressure1WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0030972HP:0032263Increased blood pressure1WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome177
HP:0030972HP:0032263Increased blood pressure1WT1 CL E G H749012796ORPHA:220Denys-Drash syndrome177
HP:0030972HP:0032263Increased blood pressure1WT1 CL E G H749012796ORPHA:347Frasier syndrome177
HP:0030972HP:0032263Increased blood pressure1WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0030972HP:0032263Increased blood pressure1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0030972HP:0032263Increased blood pressure1XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0030972HP:0032263Increased blood pressure1XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0030972HP:0032263Increased blood pressure1YY1AP1 CL E G H5524930935ORPHA:79094Grange syndrome5
HP:0030972HP:0032263Increased blood pressure1YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0030972HP:0032263Increased blood pressure1ZFYVE19 CL E G H8493620758OMIM:619849
HP:0030972HP:0032263Increased blood pressure1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0030972HP:0032263Increased blood pressure1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0030972HP:0500105Decreased systolic blood pressure2 CL E G H
HP:0030972HP:0500104Decreased diastolic blood pressure2 CL E G H
HP:0030972HP:0001278Orthostatic hypotension2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0030972HP:0000822Hypertension2ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040283 - Occasional111
HP:0030972HP:0000822Hypertension2ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemiaHP:0040282 - Frequent20
HP:0030972HP:0000822Hypertension2ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2HP:0040283 - Occasional415
HP:0030972HP:0000822Hypertension2ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent415
HP:0030972HP:0000822Hypertension2ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0030972HP:0000822Hypertension2ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0030972HP:0001409Portal hypertension2ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0030972HP:0000822Hypertension2ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent67
HP:0030972HP:0000822Hypertension2ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent76
HP:0030972HP:0000822Hypertension2ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0030972HP:0000822Hypertension2ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0030972HP:0000822Hypertension2ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent94
HP:0030972HP:0000822Hypertension2ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.94
HP:0030972HP:0001409Portal hypertension2ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0030972HP:0000822Hypertension2ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1.27
HP:0030972HP:0001409Portal hypertension2ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0030972HP:0000822Hypertension2ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0030972HP:0000822Hypertension2ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0030972HP:0000822Hypertension2ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0030972HP:0000822Hypertension2ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0030972HP:0001409Portal hypertension2ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0030972HP:0000822Hypertension2ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional84
HP:0030972HP:0004972Elevated mean arterial pressure2ADD1 CL E G H118243OMIM:145500Hypertension, essential.1
HP:0030972HP:0004421Elevated systolic blood pressure2ADD1 CL E G H118243OMIM:145500Hypertension, essential.1
HP:0030972HP:0005117Elevated diastolic blood pressure2ADD1 CL E G H118243OMIM:145500Hypertension, essential.1
HP:0030972HP:0005117Elevated diastolic blood pressure2AGT CL E G H183333OMIM:145500Hypertension, essential.48
HP:0030972HP:0004972Elevated mean arterial pressure2AGT CL E G H183333OMIM:145500Hypertension, essential.48
HP:0030972HP:0004421Elevated systolic blood pressure2AGT CL E G H183333OMIM:145500Hypertension, essential.48
HP:0030972HP:0004972Elevated mean arterial pressure2AGTR1 CL E G H185336OMIM:145500Hypertension, essential.33
HP:0030972HP:0004421Elevated systolic blood pressure2AGTR1 CL E G H185336OMIM:145500Hypertension, essential.33
HP:0030972HP:0005117Elevated diastolic blood pressure2AGTR1 CL E G H185336OMIM:145500Hypertension, essential.33
HP:0030972HP:0000822Hypertension2AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0030972HP:0000822Hypertension2AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0030972HP:0000822Hypertension2AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0030972HP:0000822Hypertension2ALG5 CL E G H2988020266OMIM:620056
HP:0030972HP:0000822Hypertension2ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent93
HP:0030972HP:0001409Portal hypertension2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0030972HP:0000822Hypertension2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0030972HP:0000822Hypertension2ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0030972HP:0000822Hypertension2ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional132
HP:0030972HP:0000822Hypertension2ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral40
HP:0030972HP:0000822Hypertension2APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent356
HP:0030972HP:0000822Hypertension2APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040282 - Frequent19
HP:0030972HP:0001409Portal hypertension2ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0030972HP:0000822Hypertension2ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0030972HP:0000822Hypertension2ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent29
HP:0030972HP:0000822Hypertension2ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0030972HP:0000822Hypertension2ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 2.7
HP:0030972HP:0000822Hypertension2ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent7
HP:0030972HP:0001278Orthostatic hypotension2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0030972HP:0000822Hypertension2ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0030972HP:0001409Portal hypertension2ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0030972HP:0001278Orthostatic hypotension2ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0030972HP:0000822Hypertension2ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0030972HP:0004421Elevated systolic blood pressure2AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis.67
HP:0030972HP:0000822Hypertension2B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral8
HP:0030972HP:0000822Hypertension2BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent114
HP:0030972HP:0000822Hypertension2BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0030972HP:0000822Hypertension2BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent118
HP:0030972HP:0000822Hypertension2BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent71
HP:0030972HP:0000822Hypertension2BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent97
HP:0030972HP:0000822Hypertension2BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent87
HP:0030972HP:0000822Hypertension2BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent25
HP:0030972HP:0000822Hypertension2BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent66
HP:0030972HP:0000822Hypertension2BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent119
HP:0030972HP:0000822Hypertension2BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent5
HP:0030972HP:0001409Portal hypertension2BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0030972HP:0000822Hypertension2BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1.525
HP:0030972HP:0000822Hypertension2BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0030972HP:0000822Hypertension2BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0030972HP:0000822Hypertension2BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0030972HP:0000822Hypertension2BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0030972HP:0000822Hypertension2BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0030972HP:0001409Portal hypertension2BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 5HP:0040282 - Frequent92
HP:0030972HP:0000822Hypertension2CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.HP:0003623 - Neonatal onset51
HP:0030972HP:0000822Hypertension2CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040280 - Obligate51
HP:0030972HP:0000822Hypertension2CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV.75
HP:0030972HP:0001409Portal hypertension2CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent1
HP:0030972HP:0001409Portal hypertension2CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0030972HP:0001278Orthostatic hypotension2CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0030972HP:0000822Hypertension2CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0030972HP:0001409Portal hypertension2CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0030972HP:0000822Hypertension2CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0030972HP:0000822Hypertension2CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0030972HP:0001409Portal hypertension2CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0030972HP:0000822Hypertension2CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0030972HP:0000822Hypertension2CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0000822Hypertension2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0030972HP:0000822Hypertension2CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0030972HP:0000822Hypertension2CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0030972HP:0000822Hypertension2CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2HP:0040282 - Frequent39
HP:0030972HP:0000822Hypertension2CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0030972HP:0000822Hypertension2CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0030972HP:0000822Hypertension2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0030972HP:0000822Hypertension2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0030972HP:0000822Hypertension2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0030972HP:0000822Hypertension2CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0030972HP:0000822Hypertension2CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0030972HP:0000822Hypertension2CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0030972HP:0000822Hypertension2CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent342
HP:0030972HP:0000822Hypertension2CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0030972HP:0000822Hypertension2CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 4HP:0040282 - Frequent30
HP:0030972HP:0000822Hypertension2CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0030972HP:0000822Hypertension2CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0030972HP:0000822Hypertension2CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0030972HP:0000822Hypertension2CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 3HP:0040282 - Frequent57
HP:0030972HP:0001278Orthostatic hypotension2CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0030972HP:0001278Orthostatic hypotension2CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0030972HP:0000822Hypertension2CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0030972HP:0000822Hypertension2CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type IIHP:0040280 - Obligate44
HP:0030972HP:0000822Hypertension2CLCN2 CL E G H11812020OMIM:605635Hyperaldosteronism, familial, type II.44
HP:0030972HP:0002632Low-to-normal blood pressure2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0030972HP:0001409Portal hypertension2CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:0030972HP:0000822Hypertension2CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0001278Orthostatic hypotension2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare373
HP:0030972HP:0000822Hypertension2COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent749
HP:0030972HP:0000822Hypertension2COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0030972HP:0000822Hypertension2COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0030972HP:0000822Hypertension2COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0030972HP:0000822Hypertension2COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0030972HP:0000822Hypertension2COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0030972HP:0001278Orthostatic hypotension2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare660
HP:0030972HP:0001278Orthostatic hypotension2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040284 - Very rare325
HP:0030972HP:0000822Hypertension2COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0030972HP:0001278Orthostatic hypotension2COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0030972HP:0001278Orthostatic hypotension2COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0030972HP:0001278Orthostatic hypotension2COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0030972HP:0000822Hypertension2COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0030972HP:0000822Hypertension2CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040281 - Very frequent5
HP:0030972HP:0005117Elevated diastolic blood pressure2CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040281 - Very frequent5
HP:0030972HP:0004421Elevated systolic blood pressure2CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040281 - Very frequent5
HP:0030972HP:0000822Hypertension2COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0030972HP:0000822Hypertension2CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0030972HP:0000822Hypertension2CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0030972HP:0000822Hypertension2CUL3 CL E G H84522553OMIM:614496Pseudohypoaldosteronism, type IIE.92
HP:0030972HP:0001278Orthostatic hypotension2CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2.
HP:0030972HP:0000822Hypertension2CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0030972HP:0000822Hypertension2CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0030972HP:0000822Hypertension2CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040280 - Obligate112
HP:0030972HP:0000822Hypertension2CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism.112
HP:0030972HP:0001278Orthostatic hypotension2CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0030972HP:0000822Hypertension2CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040280 - Obligate73
HP:0030972HP:0001278Orthostatic hypotension2CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency.73
HP:0030972HP:0000822Hypertension2CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency.53
HP:0030972HP:0000822Hypertension2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040281 - Very frequent53
HP:0030972HP:0000822Hypertension2CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0030972HP:0004972Elevated mean arterial pressure2CYP3A5 CL E G H15772638OMIM:145500Hypertension, essential.2
HP:0030972HP:0004421Elevated systolic blood pressure2CYP3A5 CL E G H15772638OMIM:145500Hypertension, essential.2
HP:0030972HP:0005117Elevated diastolic blood pressure2CYP3A5 CL E G H15772638OMIM:145500Hypertension, essential.2
HP:0030972HP:0000822Hypertension2CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0001278Orthostatic hypotension2DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040281 - Very frequent80
HP:0030972HP:0001278Orthostatic hypotension2DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0030972HP:0001409Portal hypertension2DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0030972HP:0001409Portal hypertension2DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0030972HP:0000822Hypertension2DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0030972HP:0000822Hypertension2DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030972HP:0001409Portal hypertension2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0030972HP:0001409Portal hypertension2DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0030972HP:0000822Hypertension2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0030972HP:0000822Hypertension2DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0030972HP:0001409Portal hypertension2DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0030972HP:0001409Portal hypertension2DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6HP:0040283 - Occasional9
HP:0030972HP:0000822Hypertension2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0000822Hypertension2DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0030972HP:0001278Orthostatic hypotension2DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0000822Hypertension2DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0030972HP:0001409Portal hypertension2DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0030972HP:0000822Hypertension2DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0030972HP:0000822Hypertension2DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 3.7
HP:0030972HP:0001409Portal hypertension2DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0030972HP:0000822Hypertension2DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent4
HP:0030972HP:0000822Hypertension2DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0030972HP:0000822Hypertension2ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0030972HP:0004421Elevated systolic blood pressure2ECE1 CL E G H18893146OMIM:145500Hypertension, essential.13
HP:0030972HP:0005117Elevated diastolic blood pressure2ECE1 CL E G H18893146OMIM:145500Hypertension, essential.13
HP:0030972HP:0004972Elevated mean arterial pressure2ECE1 CL E G H18893146OMIM:145500Hypertension, essential.13
HP:0030972HP:0000822Hypertension2EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0030972HP:0000822Hypertension2EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0030972HP:0000822Hypertension2EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0030972HP:0001278Orthostatic hypotension2EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0030972HP:0000822Hypertension2EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent172
HP:0030972HP:0000822Hypertension2ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0030972HP:0000822Hypertension2ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030972HP:0001409Portal hypertension2ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030972HP:0000822Hypertension2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040282 - Frequent133
HP:0030972HP:0001278Orthostatic hypotension2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0030972HP:0001278Orthostatic hypotension2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0030972HP:0000822Hypertension2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0030972HP:0000822Hypertension2ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent186
HP:0030972HP:0001409Portal hypertension2ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0030972HP:0000822Hypertension2ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1.151
HP:0030972HP:0000822Hypertension2ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent151
HP:0030972HP:0000822Hypertension2ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0030972HP:0001409Portal hypertension2EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0030972HP:0000822Hypertension2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0030972HP:0000822Hypertension2ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0030972HP:0000822Hypertension2ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0030972HP:0000822Hypertension2ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0030972HP:0000822Hypertension2ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0030972HP:0000822Hypertension2ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0030972HP:0000822Hypertension2ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0030972HP:0000822Hypertension2EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional102
HP:0030972HP:0001409Portal hypertension2F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent159
HP:0030972HP:0001409Portal hypertension2FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0030972HP:0000822Hypertension2FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent1361
HP:0030972HP:0000822Hypertension2FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional1361
HP:0030972HP:0000822Hypertension2FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndromeHP:0040283 - Occasional1361
HP:0030972HP:0000822Hypertension2FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0030972HP:0000822Hypertension2FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral47
HP:0030972HP:0000822Hypertension2FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0030972HP:0000822Hypertension2FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0030972HP:0000822Hypertension2FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040283 - Occasional175
HP:0030972HP:0000822Hypertension2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0030972HP:0000822Hypertension2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0030972HP:0000822Hypertension2FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0004421Elevated systolic blood pressure2FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040281 - Very frequent11
HP:0030972HP:0005117Elevated diastolic blood pressure2FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040281 - Very frequent11
HP:0030972HP:0000822Hypertension2FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040281 - Very frequent11
HP:0030972HP:0000822Hypertension2FMO3 CL E G H23283771OMIM:602079Trimethylaminuria.55
HP:0030972HP:0000822Hypertension2FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0030972HP:0000822Hypertension2FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0030972HP:0000822Hypertension2FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathyHP:0040281 - Very frequent9
HP:0030972HP:0000822Hypertension2FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 2.9
HP:0030972HP:0000822Hypertension2FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent23
HP:0030972HP:0000822Hypertension2FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0030972HP:0000822Hypertension2G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0030972HP:0000822Hypertension2GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent6
HP:0030972HP:0000822Hypertension2GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 3HP:0040283 - Occasional6
HP:0030972HP:0000822Hypertension2GATA5 CL E G H14062815802ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent10
HP:0030972HP:0000822Hypertension2GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0030972HP:0001278Orthostatic hypotension2GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0030972HP:0001409Portal hypertension2GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0030972HP:0001278Orthostatic hypotension2GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult formHP:0040283 - Occasional86
HP:0030972HP:0000822Hypertension2GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0030972HP:0001409Portal hypertension2GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0030972HP:0001409Portal hypertension2GDF2 CL E G H26584217OMIM:615506TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT58
HP:0030972HP:0000822Hypertension2GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0030972HP:0001278Orthostatic hypotension2GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0030972HP:0001409Portal hypertension2GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0030972HP:0000822Hypertension2GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0030972HP:0000822Hypertension2GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0030972HP:0000822Hypertension2GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0030972HP:0001409Portal hypertension2GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0030972HP:0001278Orthostatic hypotension2GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0030972HP:0000822Hypertension2GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0030972HP:0000822Hypertension2GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent101
HP:0030972HP:0000822Hypertension2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0030972HP:0001409Portal hypertension2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030972HP:0004421Elevated systolic blood pressure2GNB3 CL E G H27844400OMIM:145500Hypertension, essential.5
HP:0030972HP:0005117Elevated diastolic blood pressure2GNB3 CL E G H27844400OMIM:145500Hypertension, essential.5
HP:0030972HP:0004972Elevated mean arterial pressure2GNB3 CL E G H27844400OMIM:145500Hypertension, essential.5
HP:0030972HP:0000822Hypertension2GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0030972HP:0000822Hypertension2GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0030972HP:0000822Hypertension2GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0030972HP:0001409Portal hypertension2GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0030972HP:0001278Orthostatic hypotension2GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0030972HP:0000822Hypertension2GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasiaHP:0040283 - Occasional
HP:0030972HP:0000822Hypertension2GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasiaHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0030972HP:0000822Hypertension2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030972HP:0000822Hypertension2HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0030972HP:0001278Orthostatic hypotension2HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0030972HP:0000822Hypertension2HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent
HP:0030972HP:0001409Portal hypertension2HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0030972HP:0000822Hypertension2HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040283 - Occasional77
HP:0030972HP:0000822Hypertension2HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0030972HP:0000822Hypertension2HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0030972HP:0000822Hypertension2HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0030972HP:0000822Hypertension2HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0030972HP:0001409Portal hypertension2HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040282 - Frequent81
HP:0030972HP:0000822Hypertension2HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0030972HP:0000822Hypertension2HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0030972HP:0000822Hypertension2HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040283 - Occasional9
HP:0030972HP:0000822Hypertension2HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0030972HP:0000822Hypertension2HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040281 - Very frequent14
HP:0030972HP:0000822Hypertension2HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0030972HP:0000822Hypertension2IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0030972HP:0000822Hypertension2IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0030972HP:0000822Hypertension2IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0030972HP:0000822Hypertension2IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0030972HP:0000822Hypertension2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0030972HP:0000822Hypertension2IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent148
HP:0030972HP:0000822Hypertension2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030972HP:0000822Hypertension2IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent48
HP:0030972HP:0000822Hypertension2IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent3
HP:0030972HP:0001409Portal hypertension2IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001278Orthostatic hypotension2IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0030972HP:0001409Portal hypertension2IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0030972HP:0001278Orthostatic hypotension2IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0030972HP:0000822Hypertension2IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0030972HP:0001409Portal hypertension2INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0030972HP:0000822Hypertension2INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0030972HP:0000822Hypertension2INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0030972HP:0000822Hypertension2IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0030972HP:0000822Hypertension2IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0030972HP:0001278Orthostatic hypotension2IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0030972HP:0001409Portal hypertension2IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0030972HP:0001409Portal hypertension2ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0030972HP:0001409Portal hypertension2ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0030972HP:0000822Hypertension2ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0030972HP:0001409Portal hypertension2JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent57
HP:0030972HP:0000822Hypertension2JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0030972HP:0001409Portal hypertension2JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040283 - Occasional57
HP:0030972HP:0000822Hypertension2JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0030972HP:0001409Portal hypertension2JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0030972HP:0000822Hypertension2JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0030972HP:0002632Low-to-normal blood pressure2KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0030972HP:0000822Hypertension2KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040280 - Obligate128
HP:0030972HP:0000822Hypertension2KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III.128
HP:0030972HP:0005117Elevated diastolic blood pressure2KCNMB1 CL E G H37796285OMIM:608622HYPERTENSION, DIASTOLIC, RESISTANCE TO1
HP:0030972HP:0000822Hypertension2KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0030972HP:0000822Hypertension2KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0030972HP:0001409Portal hypertension2KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0030972HP:0000822Hypertension2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0030972HP:0000822Hypertension2KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0030972HP:0000822Hypertension2KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0030972HP:0000822Hypertension2KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID.118
HP:0030972HP:0000822Hypertension2KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0030972HP:0000822Hypertension2LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0030972HP:0000822Hypertension2LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0030972HP:0000822Hypertension2LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0030972HP:0000822Hypertension2LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent2157
HP:0030972HP:0000822Hypertension2LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent73
HP:0030972HP:0000822Hypertension2LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0030972HP:0000822Hypertension2LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosisHP:0040283 - Occasional68
HP:0030972HP:0001278Orthostatic hypotension2LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0030972HP:0001278Orthostatic hypotension2LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0030972HP:0000822Hypertension2LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0001409Portal hypertension2LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0030972HP:0000822Hypertension2LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0030972HP:0000822Hypertension2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0030972HP:0000822Hypertension2LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040281 - Very frequent645
HP:0030972HP:0000822Hypertension2LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0030972HP:0000822Hypertension2LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0030972HP:0000822Hypertension2LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0030972HP:0001278Orthostatic hypotension2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0030972HP:0001278Orthostatic hypotension2LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0030972HP:0000822Hypertension2LMX1B CL E G H40106654ORPHA:2613Nail-patella-like renal diseaseHP:0040281 - Very frequent165
HP:0030972HP:0000822Hypertension2LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent6
HP:0030972HP:0000822Hypertension2LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040283 - Occasional5
HP:0030972HP:0000822Hypertension2LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 2.26
HP:0030972HP:0001278Orthostatic hypotension2LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0030972HP:0000822Hypertension2LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral32
HP:0030972HP:0000822Hypertension2LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent4
HP:0030972HP:0000822Hypertension2MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0030972HP:0000822Hypertension2MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent13
HP:0030972HP:0000822Hypertension2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0030972HP:0000822Hypertension2MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0030972HP:0000822Hypertension2MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0030972HP:0000822Hypertension2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0030972HP:0000822Hypertension2MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0030972HP:0001409Portal hypertension2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030972HP:0000822Hypertension2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030972HP:0000822Hypertension2MEF2A CL E G H42056993OMIM:608320Coronary artery disease, autosomal dominant, 1.5
HP:0030972HP:0000822Hypertension2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0030972HP:0000822Hypertension2METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent11
HP:0030972HP:0000822Hypertension2MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0030972HP:0000822Hypertension2MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent69
HP:0030972HP:0000822Hypertension2MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent127
HP:0030972HP:0000822Hypertension2MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0001409Portal hypertension2MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030972HP:0000822Hypertension2MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030972HP:0001278Orthostatic hypotension2MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001409Portal hypertension2MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0030972HP:0001409Portal hypertension2MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040282 - Frequent51
HP:0030972HP:0000822Hypertension2MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0030972HP:0001409Portal hypertension2MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040283 - Occasional97
HP:0030972HP:0001409Portal hypertension2MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0030972HP:0001409Portal hypertension2MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0030972HP:0000822Hypertension2MTTP CL E G H45477467OMIM:605552Abdominal obesity-metabolic syndrome 1.81
HP:0030972HP:0000822Hypertension2MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0030972HP:0000822Hypertension2MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent418
HP:0030972HP:0000822Hypertension2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0030972HP:0000822Hypertension2MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent326
HP:0030972HP:0000822Hypertension2MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0030972HP:0000822Hypertension2MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0030972HP:0000822Hypertension2NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0030972HP:0000822Hypertension2ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0030972HP:0001409Portal hypertension2NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosisHP:0040282 - Frequent5
HP:0030972HP:0000822Hypertension2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0030972HP:0000822Hypertension2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0030972HP:0000822Hypertension2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0030972HP:0000822Hypertension2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0030972HP:0000822Hypertension2NKX2-5 CL E G H14822488ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent90
HP:0030972HP:0000822Hypertension2NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0030972HP:0000822Hypertension2NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0030972HP:0004972Elevated mean arterial pressure2NOS3 CL E G H48467876OMIM:145500Hypertension, essential.8
HP:0030972HP:0004421Elevated systolic blood pressure2NOS3 CL E G H48467876OMIM:145500Hypertension, essential.8
HP:0030972HP:0005117Elevated diastolic blood pressure2NOS3 CL E G H48467876OMIM:145500Hypertension, essential.8
HP:0030972HP:0000822Hypertension2NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 1.8
HP:0030972HP:0001409Portal hypertension2NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0030972HP:0000822Hypertension2NOTCH1 CL E G H48517881ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent452
HP:0030972HP:0000822Hypertension2NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0030972HP:0000822Hypertension2NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0030972HP:0000822Hypertension2NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent85
HP:0030972HP:0000822Hypertension2NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0030972HP:0000822Hypertension2NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0030972HP:0001409Portal hypertension2NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0030972HP:0001409Portal hypertension2NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0030972HP:0000822Hypertension2NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0030972HP:0000822Hypertension2NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0030972HP:0000822Hypertension2NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0030972HP:0000822Hypertension2NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040282 - Frequent79
HP:0030972HP:0000822Hypertension2NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized.79
HP:0030972HP:0000822Hypertension2NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0030972HP:0000822Hypertension2NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0030972HP:0000822Hypertension2NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0030972HP:0001278Orthostatic hypotension2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0030972HP:0001278Orthostatic hypotension2NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0030972HP:0000822Hypertension2OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0030972HP:0000822Hypertension2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0030972HP:0000822Hypertension2OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0030972HP:0000822Hypertension2PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0030972HP:0000822Hypertension2PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0030972HP:0000822Hypertension2PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0030972HP:0000822Hypertension2PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0030972HP:0000822Hypertension2PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent178
HP:0030972HP:0000822Hypertension2PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030972HP:0000822Hypertension2PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0030972HP:0000822Hypertension2PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0030972HP:0000822Hypertension2PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndromeHP:0040281 - Very frequent9
HP:0030972HP:0000822Hypertension2PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome.9
HP:0030972HP:0000822Hypertension2PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0030972HP:0000822Hypertension2PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0030972HP:0001409Portal hypertension2PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0030972HP:0000822Hypertension2PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent342
HP:0030972HP:0000822Hypertension2PKD1 CL E G H53109008OMIM:173900Polycystic kidneys.342
HP:0030972HP:0000822Hypertension2PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent106
HP:0030972HP:0000822Hypertension2PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2HP:0040283 - Occasional106
HP:0030972HP:0000822Hypertension2PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent563
HP:0030972HP:0001409Portal hypertension2PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0030972HP:0001409Portal hypertension2PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040284 - Very rare563
HP:0030972HP:0001409Portal hypertension2PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0030972HP:0000822Hypertension2PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0030972HP:0000822Hypertension2PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0030972HP:0000822Hypertension2PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0030972HP:0000822Hypertension2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0030972HP:0001278Orthostatic hypotension2POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001409Portal hypertension2POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040283 - Occasional40
HP:0030972HP:0000822Hypertension2POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0030972HP:0000822Hypertension2PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040280 - Obligate42
HP:0030972HP:0000822Hypertension2PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0030972HP:0001409Portal hypertension2PRIM1 CL E G H55579369OMIM:620005
HP:0030972HP:0000822Hypertension2PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0030972HP:0000822Hypertension2PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0030972HP:0000822Hypertension2PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0030972HP:0000822Hypertension2PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030972HP:0000822Hypertension2PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0030972HP:0000822Hypertension2PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0030972HP:0000822Hypertension2PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent41
HP:0030972HP:0000822Hypertension2PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0030972HP:0001278Orthostatic hypotension2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0030972HP:0004972Elevated mean arterial pressure2PTGIS CL E G H57409603OMIM:145500Hypertension, essential.3
HP:0030972HP:0004421Elevated systolic blood pressure2PTGIS CL E G H57409603OMIM:145500Hypertension, essential.3
HP:0030972HP:0005117Elevated diastolic blood pressure2PTGIS CL E G H57409603OMIM:145500Hypertension, essential.3
HP:0030972HP:0000822Hypertension2PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0030972HP:0001409Portal hypertension2RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0030972HP:0000822Hypertension2REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0030972HP:0000822Hypertension2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0030972HP:0000822Hypertension2RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0030972HP:0000822Hypertension2RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0030972HP:0000822Hypertension2RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0030972HP:0000822Hypertension2RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0030972HP:0000822Hypertension2RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030972HP:0001409Portal hypertension2RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030972HP:0001409Portal hypertension2RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0030972HP:0000822Hypertension2RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0001409Portal hypertension2RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0030972HP:0000822Hypertension2SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 14HP:0040283 - Occasional21
HP:0030972HP:0000822Hypertension2SCNN1A CL E G H633710599ORPHA:526Liddle syndromeHP:0040281 - Very frequent67
HP:0030972HP:0000822Hypertension2SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 3.67
HP:0030972HP:0000822Hypertension2SCNN1B CL E G H633810600ORPHA:526Liddle syndromeHP:0040281 - Very frequent61
HP:0030972HP:0000822Hypertension2SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0030972HP:0000822Hypertension2SCNN1G CL E G H634010602ORPHA:526Liddle syndromeHP:0040281 - Very frequent57
HP:0030972HP:0000822Hypertension2SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 2.57
HP:0030972HP:0000822Hypertension2SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent61
HP:0030972HP:0000822Hypertension2SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0030972HP:0000822Hypertension2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0030972HP:0000822Hypertension2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0030972HP:0000822Hypertension2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0030972HP:0000822Hypertension2SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0030972HP:0000822Hypertension2SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0030972HP:0000822Hypertension2SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0030972HP:0000822Hypertension2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0030972HP:0000822Hypertension2SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0030972HP:0000822Hypertension2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0030972HP:0000822Hypertension2SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0030972HP:0000822Hypertension2SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0030972HP:0000822Hypertension2SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0030972HP:0000822Hypertension2SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0001409Portal hypertension2SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0030972HP:0000822Hypertension2SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0030972HP:0001409Portal hypertension2SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0030972HP:0001278Orthostatic hypotension2SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0030972HP:0002632Low-to-normal blood pressure2SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0030972HP:0002632Low-to-normal blood pressure2SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0030972HP:0000822Hypertension2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0030972HP:0000822Hypertension2SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0030972HP:0000822Hypertension2SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0030972HP:0000822Hypertension2SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0030972HP:0001409Portal hypertension2SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0030972HP:0000822Hypertension2SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0030972HP:0000822Hypertension2SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0030972HP:0000822Hypertension2SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0030972HP:0000822Hypertension2SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0030972HP:0000822Hypertension2SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0030972HP:0000822Hypertension2SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent7
HP:0030972HP:0000822Hypertension2SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent260
HP:0030972HP:0000822Hypertension2SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent504
HP:0030972HP:0001409Portal hypertension2SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0030972HP:0000822Hypertension2SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0030972HP:0000822Hypertension2SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0030972HP:0000822Hypertension2SMAD6 CL E G H40916772ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent33
HP:0030972HP:0000822Hypertension2SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0030972HP:0000822Hypertension2SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0030972HP:0001278Orthostatic hypotension2SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0030972HP:0001278Orthostatic hypotension2SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0030972HP:0001409Portal hypertension2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0030972HP:0001409Portal hypertension2SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0030972HP:0001278Orthostatic hypotension2SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0030972HP:0001278Orthostatic hypotension2SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001409Portal hypertension2SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0030972HP:0001409Portal hypertension2SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0030972HP:0000822Hypertension2STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0030972HP:0000822Hypertension2STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0030972HP:0001409Portal hypertension2STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0030972HP:0004421Elevated systolic blood pressure2STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040281 - Very frequent2
HP:0030972HP:0005117Elevated diastolic blood pressure2STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040281 - Very frequent2
HP:0030972HP:0000822Hypertension2STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040281 - Very frequent2
HP:0030972HP:0000822Hypertension2STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III.8
HP:0030972HP:0000822Hypertension2TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0030972HP:0001409Portal hypertension2TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0030972HP:0000822Hypertension2TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0030972HP:0001409Portal hypertension2TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0030972HP:0001409Portal hypertension2TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040283 - Occasional3
HP:0030972HP:0000822Hypertension2TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0030972HP:0001409Portal hypertension2TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0030972HP:0000822Hypertension2TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent162
HP:0030972HP:0000822Hypertension2TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent85
HP:0030972HP:0000822Hypertension2TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent239
HP:0030972HP:0000822Hypertension2TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent253
HP:0030972HP:0000822Hypertension2TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 6HP:0040282 - Frequent60
HP:0030972HP:0000822Hypertension2THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent2
HP:0030972HP:0001409Portal hypertension2TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0030972HP:0000822Hypertension2TLR7 CL E G H5128415631OMIM:301080
HP:0030972HP:0000822Hypertension2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0030972HP:0000822Hypertension2TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0030972HP:0000822Hypertension2TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14HP:0040282 - Frequent82
HP:0030972HP:0000822Hypertension2TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0030972HP:0001409Portal hypertension2TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0030972HP:0001409Portal hypertension2TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0030972HP:0000822Hypertension2TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0030972HP:0001409Portal hypertension2TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0030972HP:0000822Hypertension2TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0030972HP:0000822Hypertension2TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent72
HP:0030972HP:0000822Hypertension2TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent44
HP:0030972HP:0001409Portal hypertension2TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001278Orthostatic hypotension2TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0030972HP:0001278Orthostatic hypotension2TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0030972HP:0001409Portal hypertension2TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0030972HP:0000822Hypertension2TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030972HP:0000822Hypertension2TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0030972HP:0000822Hypertension2TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0030972HP:0000822Hypertension2TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0030972HP:0000822Hypertension2TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040282 - Frequent56
HP:0030972HP:0000822Hypertension2TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent108
HP:0030972HP:0000822Hypertension2TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0030972HP:0000822Hypertension2TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040283 - Occasional
HP:0030972HP:0000822Hypertension2TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0030972HP:0000822Hypertension2TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0030972HP:0000822Hypertension2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0030972HP:0000822Hypertension2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0030972HP:0001409Portal hypertension2TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030972HP:0000822Hypertension2TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent41
HP:0030972HP:0001278Orthostatic hypotension2TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0030972HP:0001409Portal hypertension2TULP3 CL E G H728912425OMIM:619902
HP:0030972HP:0000822Hypertension2UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0030972HP:0000822Hypertension2USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0030972HP:0000822Hypertension2USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0030972HP:0000822Hypertension2USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0030972HP:0000822Hypertension2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0030972HP:0000822Hypertension2VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0030972HP:0000822Hypertension2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0030972HP:0000822Hypertension2VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0030972HP:0000822Hypertension2VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0030972HP:0000822Hypertension2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0030972HP:0000822Hypertension2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0030972HP:0001278Orthostatic hypotension2VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0030972HP:0000822Hypertension2VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0000822Hypertension2WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent60
HP:0030972HP:0000822Hypertension2WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0030972HP:0000822Hypertension2WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0030972HP:0000822Hypertension2WNK1 CL E G H6512514540OMIM:614492Pseudohypoaldosteronism, type IIC.199
HP:0030972HP:0000822Hypertension2WNK4 CL E G H6526614544OMIM:614491Pseudohypoaldosteronism, type IIB.71
HP:0030972HP:0000822Hypertension2WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0030972HP:0000822Hypertension2WT1 CL E G H749012796ORPHA:220Denys-Drash syndromeHP:0040282 - Frequent177
HP:0030972HP:0000822Hypertension2WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0030972HP:0000822Hypertension2WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040282 - Frequent177
HP:0030972HP:0000822Hypertension2WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0030972HP:0000822Hypertension2XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1HP:0040283 - Occasional109
HP:0030972HP:0000822Hypertension2XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0030972HP:0000822Hypertension2XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0030972HP:0000822Hypertension2YY1AP1 CL E G H5524930935ORPHA:79094Grange syndromeHP:0040282 - Frequent5
HP:0030972HP:0000822Hypertension2YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0030972HP:0001409Portal hypertension2ZFYVE19 CL E G H8493620758OMIM:619849
HP:0030972HP:0000822Hypertension2ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0030972HP:0000822Hypertension2ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0030972HP:0004941Extrahepatic portal hypertension3 CL E G H
HP:0030972HP:0500107Isolated diastolic hypotension3 CL E G H
HP:0030972HP:0500106Isolated systolic hypertension3 CL E G H
HP:0030972HP:0100817Renovascular hypertension3ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare253
HP:0030972HP:0100735Hypertensive crisis3ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0030972HP:0100817Renovascular hypertension3BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100735Hypertensive crisis3CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0030972HP:0100735Hypertensive crisis3CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0030972HP:0100735Hypertensive crisis3CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0030972HP:0100817Renovascular hypertension3CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0030972HP:0100735Hypertensive crisis3COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0030972HP:0100817Renovascular hypertension3DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0030972HP:0100817Renovascular hypertension3EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0030972HP:0100817Renovascular hypertension3FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0030972HP:0100817Renovascular hypertension3FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0030972HP:0100735Hypertensive crisis3GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0030972HP:0100817Renovascular hypertension3GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0100817Renovascular hypertension3GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0100817Renovascular hypertension3GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0100735Hypertensive crisis3HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0030972HP:0100735Hypertensive crisis3HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0030972HP:0100735Hypertensive crisis3HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0030972HP:0100735Hypertensive crisis3IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0030972HP:0100735Hypertensive crisis3IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0030972HP:0100735Hypertensive crisis3JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0030972HP:0000875Episodic hypertension3KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0030972HP:0000875Episodic hypertension3LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040282 - Frequent47
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040282 - Frequent46
HP:0030972HP:0100817Renovascular hypertension3LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0030972HP:0000875Episodic hypertension3MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0030972HP:0100817Renovascular hypertension3METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0100735Hypertensive crisis3MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0030972HP:0100817Renovascular hypertension3MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030972HP:0100735Hypertensive crisis3MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0030972HP:0100735Hypertensive crisis3MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0030972HP:0100817Renovascular hypertension3NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0030972HP:0100817Renovascular hypertension3NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0030972HP:0005307Postural hypotension with compensatory tachycardia3NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040284 - Very rare81
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0030972HP:0000875Episodic hypertension3RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0030972HP:0100817Renovascular hypertension3RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100735Hypertensive crisis3RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0030972HP:0000875Episodic hypertension3SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0030972HP:0000875Episodic hypertension3SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0030972HP:0100735Hypertensive crisis3SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0030972HP:0005307Postural hypotension with compensatory tachycardia3SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0030972HP:0100817Renovascular hypertension3STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0030972HP:0100817Renovascular hypertension3STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100735Hypertensive crisis3TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0030972HP:0100735Hypertensive crisis3TLR7 CL E G H5128415631OMIM:301080
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0030972HP:0000875Episodic hypertension3TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0030972HP:0100817Renovascular hypertension3TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0030972HP:0100735Hypertensive crisis3UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0030972HP:0100817Renovascular hypertension3VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0030972HP:0000875Episodic hypertension3VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0030972HP:0002640Hypertension associated with pheochromocytoma3VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0030972HP:0004926Orthostatic hypotension due to autonomic dysfunction3VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0030972HP:0100817Renovascular hypertension3VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030972HP:0100817Renovascular hypertension3XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0030972HP:0100817Renovascular hypertension3XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0030972HP:0100817Renovascular hypertension3YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0030972HP:0003574Positive regitine blocking test4DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0030972HP:0003574Positive regitine blocking test4DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0030972HP:0003574Positive regitine blocking test4EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0030972HP:0003574Positive regitine blocking test4FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0030972HP:0003574Positive regitine blocking test4KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0030972HP:0003574Positive regitine blocking test4KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0030972HP:0003574Positive regitine blocking test4MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0030972HP:0003574Positive regitine blocking test4MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0030972HP:0003574Positive regitine blocking test4MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0030972HP:0003574Positive regitine blocking test4NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0030972HP:0003574Positive regitine blocking test4RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0030972HP:0003574Positive regitine blocking test4RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0030972HP:0003574Positive regitine blocking test4RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0030972HP:0003574Positive regitine blocking test4SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0030972HP:0003574Positive regitine blocking test4SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0030972HP:0003574Positive regitine blocking test4SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0030972HP:0003574Positive regitine blocking test4SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0030972HP:0003574Positive regitine blocking test4SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0030972HP:0003574Positive regitine blocking test4SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0030972HP:0003574Positive regitine blocking test4SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0030972HP:0003574Positive regitine blocking test4SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0030972HP:0003574Positive regitine blocking test4SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0030972HP:0003574Positive regitine blocking test4SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0030972HP:0003574Positive regitine blocking test4TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0030972HP:0003574Positive regitine blocking test4TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0030972HP:0003574Positive regitine blocking test4VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0030972HP:0003574Positive regitine blocking test4VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0030972HP:0003574Positive regitine blocking test4VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490


Genes (500) :AAAS ABCA3 ABCB4 ABCB6 ABCC6 ABCD3 ABCG5 ABCG8 ACAT1 ACE ACP5 ACTA2 ACTG2 ACTN4 ACVRL1 ADA2 ADAMTSL4 ADD1 AGT AGTR1 AIP ALB ALG5 ALG9 ALMS1 ALX4 ANGPTL6 APOA1 APOB APRT ARHGAP31 ARL6 ARMC5 ARSA ARVCF ASXL1 ATP7A ATRX AVPR2 B2M BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BMP6 BMPR2 BNC2 BRAF BRCA2 BRCC3 BSCL2 BTNL2 BUD23 C3 CACNA1D CACNA1H CALR CASR CAV1 CBL CBS CC2D2A CCDC28B CCN2 CCND1 CCR6 CD2AP CD46 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CELA2A CEP164 CEP19 CEP290 CFAP418 CFB CFH CFHR1 CFHR3 CFI CHCHD2 CHRNA3 CIDEC CLCN2 CLCNKB CLDN1 CLIP2 COL1A1 COL3A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COMT COQ2 COQ7 CORIN COX1 COX2 COX3 CPOX CTLA4 CTNNB1 CUL3 CYB561 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP3A5 CYTB DAXX DBH DCDC2 DCTN1 DDC DEF6 DGUOK DHCR7 DIS3L2 DLL4 DLST DNAJB11 DNAJC13 DNAJC30 DNMT3A DOCK6 DST DYRK1B DZIP1L ECE1 EDA EDA2R EGFR EIF4G1 EIF4H ELN ELP1 ENG ENPP1 EOGT EPAS1 ERCC4 ERCC6 ERCC8 EXT2 F5 FARSB FBN1 FGA FGFR2 FH FIG4 FKBP6 FLT1 FMO3 FMR1 FN1 FOXA2 FOXE3 FUZ G6PC1 GANAB GATA5 GBA1 GBE1 GCH1 GDF2 GEMIN4 GIGYF2 GIMAP5 GJA1 GLA GLI2 GLIS3 GMPPA GNA11 GNAS GNB2 GNB3 GP1BB GPC3 GPR101 GPR35 GSN GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 H19 H4C3 HBB HELLPAR HESX1 HEXB HEY2 HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HMOX1 HPSE2 HSD11B2 HSD3B2 HTRA1 IDS IDUA IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IL12A IL12B IL12RB1 IMPDH2 INF2 INPP5E INVS IQCB1 IRF4 IRF5 ITCH ITGA8 JAK2 JMJD1C KCNJ1 KCNJ5 KCNMB1 KCTD1 KIF12 KIF1B KIT KLHL3 KRT18 KYNU LAMB2 LARS2 LBX1 LDLR LDLRAP1 LEMD3 LEP LEPR LHX4 LIMK1 LIPA LIPE LMNA LMNB1 LMX1B LOX LRIG2 LRP6 LRRK2 LYZ LZTFL1 MAFB MAT2A MAX MC2R MC4R MDH2 MDM2 MED12 MEF2A MEN1 METTL27 MFAP5 MGP MKKS MKS1 MLX MLXIPL MMEL1 MMP14 MMP2 MPI MPL MRAP MST1 MTRR MTTP MUC1 MYH11 MYH7 MYLK MYMK MYMX NCF1 ND1 ND5 ND6 NDUFAF6 NEUROG3 NF1 NFIX NFKB2 NKX2-5 NNT NOD2 NOS3 NOTCH1 NOTCH2 NOTCH3 NPHP1 NPHP3 NPHP4 NR3C1 NR3C2 NR4A2 NSMCE2 NTRK1 OFD1 OSGEP OTX2 PAM16 PAX2 PBX1 PCSK9 PDE11A PDE3A PDE4D PDE8B PHF21A PIGA PIGM PKD1 PKD2 PKHD1 PLIN1 POR POU1F1 POU2AF1 POU3F4 POU6F2 PPARG PPOX PRIM1 PRKACA PRKAG2 PRKAR1A PRKG1 PROP1 PRTN3 PSAP PTGIS PTPN22 RBPJ REN REST RET RFC2 RNU4ATAC RNU7-1 RPGRIP1L RREB1 RUNX1 RYR1 SAA1 SCAPER SCN2B SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4D SERPINA6 SERPING1 SFTPB SFTPC SH2B3 SHPK SIM1 SLC12A1 SLC12A3 SLC25A11 SLC25A20 SLC2A10 SLC30A10 SLC30A9 SLC35A2 SLC37A4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCAL1 SNCA SOX10 SOX3 SP110 SPG11 SPIB SPRY2 SRSF2 STAR STAT1 STAT2 STN1 STOX1 STX1A SUGCT TBL2 TBX1 TBX19 TCF4 TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THSD1 TJP2 TLR7 TMEM127 TMEM237 TMEM270 TMEM67 TMEM70 TNFRSF11A TNFRSF11B TNFSF15 TNPO3 TOM1 TP53 TRAF3IP1 TREX1 TRIM28 TRIM32 TRIP13 TRNC TRNE TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPC6 TSC1 TSC2 TTC26 TTC8 TTR TULP3 TXNRD2 UFD1 USP48 USP8 VAC14 VANGL1 VHL VPS35 VPS37D WDPCP WDR19 WDR35 WNK1 WNK4 WRN WT1 XPNPEP3 XYLT1 XYLT2 YY1AP1 ZFYVE19 ZMPSTE24 ZNRF3

Diseases (384) :OMIM:231550 ORPHA:70587 ORPHA:69663 ORPHA:90044 OMIM:614473 ORPHA:51608 ORPHA:758 OMIM:264800 OMIM:616278 ORPHA:391665 ORPHA:134 OMIM:267430 ORPHA:1855 ORPHA:91387 OMIM:613834 OMIM:619431 OMIM:603278 ORPHA:774 OMIM:600376 OMIM:182410 ORPHA:820 OMIM:615688 ORPHA:1885 OMIM:145500 ORPHA:963 OMIM:219090 OMIM:102200 ORPHA:2965 OMIM:616000 OMIM:620056 ORPHA:730 ORPHA:64 OMIM:203800 ORPHA:52022 ORPHA:231160 OMIM:105200 ORPHA:976 ORPHA:974 OMIM:100300 ORPHA:110 OMIM:209900 OMIM:615954 ORPHA:189427 ORPHA:309271 ORPHA:567 ORPHA:98850 ORPHA:98849 OMIM:304150 ORPHA:96253 ORPHA:100075 OMIM:300539 ORPHA:904 ORPHA:465508 OMIM:178600 ORPHA:93110 ORPHA:654 ORPHA:280679 ORPHA:363400 ORPHA:797 OMIM:612925 OMIM:615474 ORPHA:369929 OMIM:617027 ORPHA:131 ORPHA:824 ORPHA:428 ORPHA:220393 OMIM:606721 ORPHA:394 OMIM:619111 ORPHA:1454 ORPHA:892 OMIM:193300 OMIM:607832 ORPHA:244242 OMIM:612922 ORPHA:91347 ORPHA:652 ORPHA:1501 OMIM:618620 ORPHA:3156 OMIM:615703 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:616710 OMIM:191800 OMIM:615238 ORPHA:404 OMIM:605635 OMIM:607364 ORPHA:358 ORPHA:59303 ORPHA:287 ORPHA:286 OMIM:104200 OMIM:203780 OMIM:301050 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:616733 ORPHA:275555 OMIM:540000 OMIM:121300 ORPHA:900 OMIM:614496 OMIM:618182 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:403 OMIM:103900 OMIM:203400 ORPHA:556030 OMIM:610600 OMIM:202110 ORPHA:90793 OMIM:201910 ORPHA:230 OMIM:223360 OMIM:617394 ORPHA:84081 ORPHA:178509 OMIM:608643 OMIM:619573 OMIM:251880 OMIM:617068 OMIM:270400 OMIM:616589 ORPHA:29072 OMIM:618061 ORPHA:411602 ORPHA:276621 OMIM:614653 OMIM:615812 ORPHA:731 OMIM:617610 OMIM:613870 ORPHA:181 OMIM:616069 OMIM:194050 ORPHA:1764 OMIM:223900 OMIM:208000 ORPHA:90321 OMIM:610965 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:613658 OMIM:616914 ORPHA:2833 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:3472 OMIM:602079 ORPHA:93256 ORPHA:449291 ORPHA:84090 OMIM:601894 ORPHA:95494 ORPHA:3027 OMIM:232200 OMIM:600666 ORPHA:402075 OMIM:230800 OMIM:232500 OMIM:263570 ORPHA:98808 OMIM:615506 OMIM:617913 OMIM:619463 OMIM:600309 OMIM:301500 ORPHA:324 OMIM:610199 OMIM:615510 OMIM:219080 ORPHA:79443 OMIM:619503 ORPHA:171 ORPHA:85448 OMIM:615750 ORPHA:401945 OMIM:619758 OMIM:603903 OMIM:268800 ORPHA:56 ORPHA:3287 ORPHA:79276 OMIM:176000 ORPHA:20 OMIM:614034 ORPHA:2704 OMIM:218030 ORPHA:320 ORPHA:90791 OMIM:616779 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:615846 ORPHA:805 OMIM:266920 ORPHA:186 OMIM:613237 OMIM:602088 ORPHA:3452 OMIM:613385 ORPHA:228426 OMIM:191830 OMIM:133100 ORPHA:729 OMIM:241200 ORPHA:251274 OMIM:613677 OMIM:608622 ORPHA:2036 OMIM:181270 OMIM:619662 OMIM:256700 OMIM:171300 ORPHA:79455 OMIM:614495 OMIM:215600 ORPHA:79155 OMIM:609049 OMIM:617021 OMIM:619483 ORPHA:1306 ORPHA:1879 ORPHA:66628 ORPHA:179494 OMIM:278000 OMIM:615980 ORPHA:79474 ORPHA:79084 ORPHA:740 OMIM:151660 ORPHA:363618 ORPHA:99027 OMIM:169500 ORPHA:2613 OMIM:610947 OMIM:166300 ORPHA:361 ORPHA:71529 OMIM:618681 OMIM:301068 OMIM:608320 OMIM:245150 ORPHA:371428 ORPHA:79319 ORPHA:2169 OMIM:605552 OMIM:174000 ORPHA:437572 ORPHA:1358 OMIM:618913 ORPHA:83620 ORPHA:97685 OMIM:162200 OMIM:602535 ORPHA:293978 OMIM:186580 ORPHA:90340 OMIM:189800 OMIM:610205 ORPHA:136 OMIM:256100 OMIM:267010 OMIM:208540 ORPHA:786 OMIM:615962 OMIM:605115 OMIM:177735 OMIM:617253 ORPHA:642 OMIM:256800 OMIM:311200 ORPHA:2750 OMIM:617729 OMIM:613320 OMIM:120330 ORPHA:97362 ORPHA:1359 OMIM:610475 ORPHA:189439 ORPHA:1276 OMIM:112410 ORPHA:439822 ORPHA:447 OMIM:610293 OMIM:173900 OMIM:613095 ORPHA:53035 OMIM:263200 OMIM:613877 ORPHA:280356 ORPHA:95699 ORPHA:1435 OMIM:604367 ORPHA:79083 ORPHA:79473 OMIM:620005 OMIM:615830 OMIM:261740 OMIM:610489 ORPHA:90695 OMIM:171400 OMIM:210710 OMIM:619487 ORPHA:466650 OMIM:145600 ORPHA:85445 OMIM:615378 ORPHA:526 OMIM:618126 OMIM:264350 OMIM:177200 OMIM:618114 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:611489 ORPHA:100050 ORPHA:440713 ORPHA:369873 OMIM:601678 OMIM:263800 OMIM:618464 OMIM:212138 ORPHA:159 OMIM:208050 ORPHA:3342 ORPHA:309854 OMIM:617595 OMIM:300896 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:139210 ORPHA:2588 OMIM:242900 ORPHA:1830 OMIM:605543 OMIM:609136 ORPHA:79124 ORPHA:2822 OMIM:616818 ORPHA:391487 OMIM:618886 OMIM:617341 OMIM:231690 ORPHA:199296 OMIM:612926 OMIM:615878 OMIM:301080 OMIM:614424 OMIM:216360 OMIM:614052 ORPHA:2801 ORPHA:247691 ORPHA:225 ORPHA:1349 OMIM:603965 OMIM:619534 OMIM:105210 OMIM:619902 OMIM:263400 OMIM:613610 OMIM:614492 OMIM:614491 ORPHA:902 OMIM:194080 ORPHA:220 ORPHA:347 OMIM:613159 ORPHA:79094 OMIM:602531 OMIM:619849
 

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