Human Phenotype Ontology 
Grandparent Node:
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Abnormal cardiovascular system physiology (HP:0011025)help
Parent Node:
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Abnormal systemic blood pressure (HP:0030972)help
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Hypertension (HP:0000822)help
Term ID: 822
Name: Hypertension
Synonym: Arterial hypertension; High blood pressure; Systemic hypertension
Definition: The presence of chronic increased pressure in the systemic arterial system.
Comments:
Reference: HP:0000822
Genes and Diseases:
 
       Child Nodes:
........expandEpisodic hypertension (HP:0000875) help
........expandPortal hypertension (HP:0001409) help
................... HP:0004941 Extrahepatic portal hypertension
........expandHypertension associated with pheochromocytoma (HP:0002640) help
................... HP:0003574 Positive regitine blocking test
........expandElevated systolic blood pressure (HP:0004421) help
........expandElevated mean arterial pressure (HP:0004972) help
........expandElevated diastolic blood pressure (HP:0005117) help
........expandHypertensive crisis (HP:0100735) help
........expandRenovascular hypertension (HP:0100817) help

 Sister Nodes: 
..expandHypotension (HP:0002615) 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:0000822HP:0000822Hypertension0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040283 - Occasional111
HP:0000822HP:0000822Hypertension0ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemiaHP:0040282 - Frequent20
HP:0000822HP:0000822Hypertension0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2HP:0040283 - Occasional415
HP:0000822HP:0000822Hypertension0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent415
HP:0000822HP:0000822Hypertension0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0000822HP:0000822Hypertension0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0000822HP:0000822Hypertension0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent67
HP:0000822HP:0000822Hypertension0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent76
HP:0000822HP:0000822Hypertension0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0000822HP:0000822Hypertension0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0000822HP:0000822Hypertension0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent94
HP:0000822HP:0000822Hypertension0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.94
HP:0000822HP:0000822Hypertension0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1.27
HP:0000822HP:0000822Hypertension0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000822HP:0000822Hypertension0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0000822HP:0000822Hypertension0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000822HP:0000822Hypertension0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000822HP:0000822Hypertension0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional84
HP:0000822HP:0000822Hypertension0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000822HP:0000822Hypertension0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0000822HP:0000822Hypertension0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0000822HP:0000822Hypertension0ALG5 CL E G H2988020266OMIM:620056
HP:0000822HP:0000822Hypertension0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent93
HP:0000822HP:0000822Hypertension0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000822HP:0000822Hypertension0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000822HP:0000822Hypertension0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional132
HP:0000822HP:0000822Hypertension0ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral40
HP:0000822HP:0000822Hypertension0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent356
HP:0000822HP:0000822Hypertension0APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040282 - Frequent19
HP:0000822HP:0000822Hypertension0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0000822HP:0000822Hypertension0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent29
HP:0000822HP:0000822Hypertension0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000822HP:0000822Hypertension0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 2.7
HP:0000822HP:0000822Hypertension0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent7
HP:0000822HP:0000822Hypertension0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000822HP:0000822Hypertension0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0000822HP:0000822Hypertension0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral8
HP:0000822HP:0000822Hypertension0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent114
HP:0000822HP:0000822Hypertension0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000822HP:0000822Hypertension0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent118
HP:0000822HP:0000822Hypertension0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent71
HP:0000822HP:0000822Hypertension0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent97
HP:0000822HP:0000822Hypertension0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent87
HP:0000822HP:0000822Hypertension0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent25
HP:0000822HP:0000822Hypertension0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent66
HP:0000822HP:0000822Hypertension0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent119
HP:0000822HP:0000822Hypertension0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent5
HP:0000822HP:0000822Hypertension0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1.525
HP:0000822HP:0000822Hypertension0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0000822HP:0000822Hypertension0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0000822HP:0000822Hypertension0BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0000822HP:0000822Hypertension0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000822HP:0000822Hypertension0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0000822HP:0000822Hypertension0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 5HP:0040282 - Frequent92
HP:0000822HP:0000822Hypertension0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.HP:0003623 - Neonatal onset51
HP:0000822HP:0000822Hypertension0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040280 - Obligate51
HP:0000822HP:0000822Hypertension0CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV.75
HP:0000822HP:0000822Hypertension0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosis11
HP:0000822HP:0000822Hypertension0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000822HP:0000822Hypertension0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0000822HP:0000822Hypertension0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0000822HP:0000822Hypertension0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000822HP:0000822Hypertension0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0000822HP:0000822Hypertension0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0000822HP:0000822Hypertension0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosis
HP:0000822HP:0000822Hypertension0CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0000822HP:0000822Hypertension0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2HP:0040282 - Frequent39
HP:0000822HP:0000822Hypertension0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0000822HP:0000822Hypertension0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0000822HP:0000822Hypertension0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0000822HP:0000822Hypertension0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0000822HP:0000822Hypertension0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0000822HP:0000822Hypertension0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0000822HP:0000822Hypertension0CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0000822HP:0000822Hypertension0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0000822HP:0000822Hypertension0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0000822HP:0000822Hypertension0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent342
HP:0000822HP:0000822Hypertension0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0000822HP:0000822Hypertension0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 4HP:0040282 - Frequent30
HP:0000822HP:0000822Hypertension0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0000822HP:0000822Hypertension0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000822HP:0000822Hypertension0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000822HP:0000822Hypertension0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 3HP:0040282 - Frequent57
HP:0000822HP:0000822Hypertension0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0000822HP:0000822Hypertension0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type IIHP:0040280 - Obligate44
HP:0000822HP:0000822Hypertension0CLCN2 CL E G H11812020OMIM:605635Hyperaldosteronism, familial, type II.44
HP:0000822HP:0000822Hypertension0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent749
HP:0000822HP:0000822Hypertension0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000822HP:0000822Hypertension0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000822HP:0000822Hypertension0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0000822HP:0000822Hypertension0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0000822HP:0000822Hypertension0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000822HP:0000822Hypertension0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000822HP:0000822Hypertension0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0000822HP:0000822Hypertension0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040281 - Very frequent5
HP:0000822HP:0000822Hypertension0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0000822HP:0000822Hypertension0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000822HP:0000822Hypertension0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0000822HP:0000822Hypertension0CUL3 CL E G H84522553OMIM:614496Pseudohypoaldosteronism, type IIE.92
HP:0000822HP:0000822Hypertension0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000822HP:0000822Hypertension0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0000822HP:0000822Hypertension0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040280 - Obligate112
HP:0000822HP:0000822Hypertension0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism.112
HP:0000822HP:0000822Hypertension0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040280 - Obligate73
HP:0000822HP:0000822Hypertension0CYP17A1 CL E G H15862593OMIM:202110Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency.53
HP:0000822HP:0000822Hypertension0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040281 - Very frequent53
HP:0000822HP:0000822Hypertension0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0000822HP:0000822Hypertension0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000822HP:0000822Hypertension0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000822HP:0000822Hypertension0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000822HP:0000822Hypertension0DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0000822HP:0000822Hypertension0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0000822HP:0000822Hypertension0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0000822HP:0000822Hypertension0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0000822HP:0000822Hypertension0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0000822HP:0000822Hypertension0DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 3.7
HP:0000822HP:0000822Hypertension0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent4
HP:0000822HP:0000822Hypertension0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0000822HP:0000822Hypertension0ECE1 CL E G H18893146OMIM:613870Hirschsprung disease, cardiac defects, and autonomic dysfunction.13
HP:0000822HP:0000822Hypertension0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0000822HP:0000822Hypertension0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0000822HP:0000822Hypertension0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0000822HP:0000822Hypertension0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent172
HP:0000822HP:0000822Hypertension0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000822HP:0000822Hypertension0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000822HP:0000822Hypertension0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040282 - Frequent133
HP:0000822HP:0000822Hypertension0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000822HP:0000822Hypertension0ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent186
HP:0000822HP:0000822Hypertension0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1.151
HP:0000822HP:0000822Hypertension0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent151
HP:0000822HP:0000822Hypertension0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0000822HP:0000822Hypertension0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0000822HP:0000822Hypertension0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0000822HP:0000822Hypertension0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000822HP:0000822Hypertension0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0000822HP:0000822Hypertension0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000822HP:0000822Hypertension0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000822HP:0000822Hypertension0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0000822HP:0000822Hypertension0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional102
HP:0000822HP:0000822Hypertension0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent1361
HP:0000822HP:0000822Hypertension0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional1361
HP:0000822HP:0000822Hypertension0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndromeHP:0040283 - Occasional1361
HP:0000822HP:0000822Hypertension0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000822HP:0000822Hypertension0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral47
HP:0000822HP:0000822Hypertension0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000822HP:0000822Hypertension0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000822HP:0000822Hypertension0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040283 - Occasional175
HP:0000822HP:0000822Hypertension0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0000822HP:0000822Hypertension0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000822HP:0000822Hypertension0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040281 - Very frequent11
HP:0000822HP:0000822Hypertension0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria.55
HP:0000822HP:0000822Hypertension0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0000822HP:0000822Hypertension0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000822HP:0000822Hypertension0FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathyHP:0040281 - Very frequent9
HP:0000822HP:0000822Hypertension0FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 2.9
HP:0000822HP:0000822Hypertension0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent23
HP:0000822HP:0000822Hypertension0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0000822HP:0000822Hypertension0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000822HP:0000822Hypertension0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent6
HP:0000822HP:0000822Hypertension0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 3HP:0040283 - Occasional6
HP:0000822HP:0000822Hypertension0GATA5 CL E G H14062815802ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent10
HP:0000822HP:0000822Hypertension0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0000822HP:0000822Hypertension0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0000822HP:0000822Hypertension0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0000822HP:0000822Hypertension0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0000822HP:0000822Hypertension0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0000822HP:0000822Hypertension0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0000822HP:0000822Hypertension0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0000822HP:0000822Hypertension0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent101
HP:0000822HP:0000822Hypertension0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000822HP:0000822Hypertension0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000822HP:0000822Hypertension0GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0000822HP:0000822Hypertension0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000822HP:0000822Hypertension0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasiaHP:0040283 - Occasional
HP:0000822HP:0000822Hypertension0GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasiaHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0000822HP:0000822Hypertension0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000822HP:0000822Hypertension0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0000822HP:0000822Hypertension0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040283 - Occasional77
HP:0000822HP:0000822Hypertension0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000822HP:0000822Hypertension0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0000822HP:0000822Hypertension0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000822HP:0000822Hypertension0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000822HP:0000822Hypertension0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosis2
HP:0000822HP:0000822Hypertension0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040282 - Frequent81
HP:0000822HP:0000822Hypertension0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0000822HP:0000822Hypertension0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0000822HP:0000822Hypertension0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040283 - Occasional9
HP:0000822HP:0000822Hypertension0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0000822HP:0000822Hypertension0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040281 - Very frequent14
HP:0000822HP:0000822Hypertension0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0000822HP:0000822Hypertension0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000822HP:0000822Hypertension0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000822HP:0000822Hypertension0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0000822HP:0000822Hypertension0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0000822HP:0000822Hypertension0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0000822HP:0000822Hypertension0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent148
HP:0000822HP:0000822Hypertension0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000822HP:0000822Hypertension0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent48
HP:0000822HP:0000822Hypertension0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent3
HP:0000822HP:0000822Hypertension0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0000822HP:0000822Hypertension0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0000822HP:0000822Hypertension0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000822HP:0000822Hypertension0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0000822HP:0000822Hypertension0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0000822HP:0000822Hypertension0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000822HP:0000822Hypertension0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosis4
HP:0000822HP:0000822Hypertension0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0000822HP:0000822Hypertension0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0000822HP:0000822Hypertension0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0000822HP:0000822Hypertension0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000822HP:0000822Hypertension0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040280 - Obligate128
HP:0000822HP:0000822Hypertension0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type III.128
HP:0000822HP:0000822Hypertension0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000822HP:0000822Hypertension0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0000822HP:0000822Hypertension0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0000822HP:0000822Hypertension0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0000822HP:0000822Hypertension0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0000822HP:0000822Hypertension0KLHL3 CL E G H262496354OMIM:614495Pseudohypoaldosteronism, type IID.118
HP:0000822HP:0000822Hypertension0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0000822HP:0000822Hypertension0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000822HP:0000822Hypertension0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0000822HP:0000822Hypertension0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000822HP:0000822Hypertension0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent2157
HP:0000822HP:0000822Hypertension0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent73
HP:0000822HP:0000822Hypertension0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000822HP:0000822Hypertension0LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosisHP:0040283 - Occasional68
HP:0000822HP:0000822Hypertension0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0000822HP:0000822Hypertension0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000822HP:0000822Hypertension0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040281 - Very frequent645
HP:0000822HP:0000822Hypertension0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000822HP:0000822Hypertension0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0000822HP:0000822Hypertension0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0000822HP:0000822Hypertension0LMX1B CL E G H40106654ORPHA:2613Nail-patella-like renal diseaseHP:0040281 - Very frequent165
HP:0000822HP:0000822Hypertension0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent6
HP:0000822HP:0000822Hypertension0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040283 - Occasional5
HP:0000822HP:0000822Hypertension0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 2.26
HP:0000822HP:0000822Hypertension0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral32
HP:0000822HP:0000822Hypertension0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent4
HP:0000822HP:0000822Hypertension0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0000822HP:0000822Hypertension0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent13
HP:0000822HP:0000822Hypertension0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0000822HP:0000822Hypertension0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0000822HP:0000822Hypertension0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0000822HP:0000822Hypertension0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0000822HP:0000822Hypertension0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000822HP:0000822Hypertension0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000822HP:0000822Hypertension0MEF2A CL E G H42056993OMIM:608320Coronary artery disease, autosomal dominant, 1.5
HP:0000822HP:0000822Hypertension0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0000822HP:0000822Hypertension0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent11
HP:0000822HP:0000822Hypertension0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000822HP:0000822Hypertension0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent69
HP:0000822HP:0000822Hypertension0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent127
HP:0000822HP:0000822Hypertension0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000822HP:0000822Hypertension0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0000822HP:0000822Hypertension0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0000822HP:0000822Hypertension0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0000822HP:0000822Hypertension0MTTP CL E G H45477467OMIM:605552Abdominal obesity-metabolic syndrome 1.81
HP:0000822HP:0000822Hypertension0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0000822HP:0000822Hypertension0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent418
HP:0000822HP:0000822Hypertension0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0000822HP:0000822Hypertension0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent326
HP:0000822HP:0000822Hypertension0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0000822HP:0000822Hypertension0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0000822HP:0000822Hypertension0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000822HP:0000822Hypertension0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0000822HP:0000822Hypertension0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0000822HP:0000822Hypertension0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0000822HP:0000822Hypertension0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0000822HP:0000822Hypertension0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000822HP:0000822Hypertension0NKX2-5 CL E G H14822488ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent90
HP:0000822HP:0000822Hypertension0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0000822HP:0000822Hypertension0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0000822HP:0000822Hypertension0NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 1.8
HP:0000822HP:0000822Hypertension0NOTCH1 CL E G H48517881ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent452
HP:0000822HP:0000822Hypertension0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0000822HP:0000822Hypertension0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0000822HP:0000822Hypertension0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent85
HP:0000822HP:0000822Hypertension0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0000822HP:0000822Hypertension0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0000822HP:0000822Hypertension0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0000822HP:0000822Hypertension0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0000822HP:0000822Hypertension0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0000822HP:0000822Hypertension0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040282 - Frequent79
HP:0000822HP:0000822Hypertension0NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized.79
HP:0000822HP:0000822Hypertension0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0000822HP:0000822Hypertension0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0000822HP:0000822Hypertension0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0000822HP:0000822Hypertension0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000822HP:0000822Hypertension0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000822HP:0000822Hypertension0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000822HP:0000822Hypertension0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0000822HP:0000822Hypertension0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000822HP:0000822Hypertension0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000822HP:0000822Hypertension0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000822HP:0000822Hypertension0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040282 - Frequent178
HP:0000822HP:0000822Hypertension0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000822HP:0000822Hypertension0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000822HP:0000822Hypertension0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0000822HP:0000822Hypertension0PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndromeHP:0040281 - Very frequent9
HP:0000822HP:0000822Hypertension0PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome.9
HP:0000822HP:0000822Hypertension0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0000822HP:0000822Hypertension0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0000822HP:0000822Hypertension0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent342
HP:0000822HP:0000822Hypertension0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys.342
HP:0000822HP:0000822Hypertension0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent106
HP:0000822HP:0000822Hypertension0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2HP:0040283 - Occasional106
HP:0000822HP:0000822Hypertension0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent563
HP:0000822HP:0000822Hypertension0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0000822HP:0000822Hypertension0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0000822HP:0000822Hypertension0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0000822HP:0000822Hypertension0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000822HP:0000822Hypertension0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040283 - Occasional40
HP:0000822HP:0000822Hypertension0POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0000822HP:0000822Hypertension0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040280 - Obligate42
HP:0000822HP:0000822Hypertension0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0000822HP:0000822Hypertension0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0000822HP:0000822Hypertension0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0000822HP:0000822Hypertension0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0000822HP:0000822Hypertension0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000822HP:0000822Hypertension0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000822HP:0000822Hypertension0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0000822HP:0000822Hypertension0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent41
HP:0000822HP:0000822Hypertension0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000822HP:0000822Hypertension0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000822HP:0000822Hypertension0REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0000822HP:0000822Hypertension0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0000822HP:0000822Hypertension0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0000822HP:0000822Hypertension0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0000822HP:0000822Hypertension0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0000822HP:0000822Hypertension0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0000822HP:0000822Hypertension0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000822HP:0000822Hypertension0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000822HP:0000822Hypertension0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 14HP:0040283 - Occasional21
HP:0000822HP:0000822Hypertension0SCNN1A CL E G H633710599ORPHA:526Liddle syndromeHP:0040281 - Very frequent67
HP:0000822HP:0000822Hypertension0SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 3.67
HP:0000822HP:0000822Hypertension0SCNN1B CL E G H633810600ORPHA:526Liddle syndromeHP:0040281 - Very frequent61
HP:0000822HP:0000822Hypertension0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0000822HP:0000822Hypertension0SCNN1G CL E G H634010602ORPHA:526Liddle syndromeHP:0040281 - Very frequent57
HP:0000822HP:0000822Hypertension0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 2.57
HP:0000822HP:0000822Hypertension0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent61
HP:0000822HP:0000822Hypertension0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000822HP:0000822Hypertension0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0000822HP:0000822Hypertension0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0000822HP:0000822Hypertension0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0000822HP:0000822Hypertension0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0000822HP:0000822Hypertension0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0000822HP:0000822Hypertension0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0000822HP:0000822Hypertension0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0000822HP:0000822Hypertension0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0000822HP:0000822Hypertension0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0000822HP:0000822Hypertension0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0000822HP:0000822Hypertension0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0000822HP:0000822Hypertension0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0000822HP:0000822Hypertension0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000822HP:0000822Hypertension0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0000822HP:0000822Hypertension0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0000822HP:0000822Hypertension0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0000822HP:0000822Hypertension0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0000822HP:0000822Hypertension0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000822HP:0000822Hypertension0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0000822HP:0000822Hypertension0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000822HP:0000822Hypertension0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000822HP:0000822Hypertension0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000822HP:0000822Hypertension0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000822HP:0000822Hypertension0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000822HP:0000822Hypertension0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent7
HP:0000822HP:0000822Hypertension0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent260
HP:0000822HP:0000822Hypertension0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent504
HP:0000822HP:0000822Hypertension0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0000822HP:0000822Hypertension0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000822HP:0000822Hypertension0SMAD6 CL E G H40916772ORPHA:402075Familial bicuspid aortic valveHP:0040282 - Frequent33
HP:0000822HP:0000822Hypertension0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000822HP:0000822Hypertension0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0000822HP:0000822Hypertension0SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0000822HP:0000822Hypertension0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0000822HP:0000822Hypertension0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0000822HP:0000822Hypertension0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040281 - Very frequent2
HP:0000822HP:0000822Hypertension0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0SUGCT CL E G H7978316001OMIM:231690Glutaric aciduria III.8
HP:0000822HP:0000822Hypertension0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000822HP:0000822Hypertension0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0000822HP:0000822Hypertension0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0000822HP:0000822Hypertension0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent162
HP:0000822HP:0000822Hypertension0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent85
HP:0000822HP:0000822Hypertension0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent239
HP:0000822HP:0000822Hypertension0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent253
HP:0000822HP:0000822Hypertension0TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 6HP:0040282 - Frequent60
HP:0000822HP:0000822Hypertension0THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent2
HP:0000822HP:0000822Hypertension0TLR7 CL E G H5128415631OMIM:301080
HP:0000822HP:0000822Hypertension0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0000822HP:0000822Hypertension0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0000822HP:0000822Hypertension0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14HP:0040282 - Frequent82
HP:0000822HP:0000822Hypertension0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0000822HP:0000822Hypertension0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000822HP:0000822Hypertension0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000822HP:0000822Hypertension0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent72
HP:0000822HP:0000822Hypertension0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent44
HP:0000822HP:0000822Hypertension0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0000822HP:0000822Hypertension0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0000822HP:0000822Hypertension0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0000822HP:0000822Hypertension0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0000822HP:0000822Hypertension0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040282 - Frequent56
HP:0000822HP:0000822Hypertension0TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent108
HP:0000822HP:0000822Hypertension0TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0000822HP:0000822Hypertension0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040283 - Occasional
HP:0000822HP:0000822Hypertension0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000822HP:0000822Hypertension0TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0000822HP:0000822Hypertension0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0000822HP:0000822Hypertension0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0000822HP:0000822Hypertension0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent41
HP:0000822HP:0000822Hypertension0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000822HP:0000822Hypertension0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0000822HP:0000822Hypertension0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0000822HP:0000822Hypertension0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0000822HP:0000822Hypertension0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000822HP:0000822Hypertension0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0000822HP:0000822Hypertension0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0000822HP:0000822Hypertension0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0000822HP:0000822Hypertension0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0000822HP:0000822Hypertension0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0000822HP:0000822Hypertension0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0000822HP:0000822Hypertension0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0000822Hypertension0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent60
HP:0000822HP:0000822Hypertension0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0000822HP:0000822Hypertension0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000822HP:0000822Hypertension0WNK1 CL E G H6512514540OMIM:614492Pseudohypoaldosteronism, type IIC.199
HP:0000822HP:0000822Hypertension0WNK4 CL E G H6526614544OMIM:614491Pseudohypoaldosteronism, type IIB.71
HP:0000822HP:0000822Hypertension0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0000822HP:0000822Hypertension0WT1 CL E G H749012796ORPHA:220Denys-Drash syndromeHP:0040282 - Frequent177
HP:0000822HP:0000822Hypertension0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0000822HP:0000822Hypertension0WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040282 - Frequent177
HP:0000822HP:0000822Hypertension0WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0000822HP:0000822Hypertension0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1HP:0040283 - Occasional109
HP:0000822HP:0000822Hypertension0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0000822HP:0000822Hypertension0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0000822HP:0000822Hypertension0YY1AP1 CL E G H5524930935ORPHA:79094Grange syndromeHP:0040282 - Frequent5
HP:0000822HP:0000822Hypertension0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0000822HP:0000822Hypertension0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0000822HP:0000822Hypertension0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0000822HP:0100735Hypertensive crisis1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000822HP:0100817Renovascular hypertension1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100735Hypertensive crisis1CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0000822HP:0100735Hypertensive crisis1CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0000822HP:0100735Hypertensive crisis1CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0000822HP:0100817Renovascular hypertension1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000822HP:0100735Hypertensive crisis1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0000822HP:0100817Renovascular hypertension1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0000822HP:0100817Renovascular hypertension1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000822HP:0100817Renovascular hypertension1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100735Hypertensive crisis1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000822HP:0100817Renovascular hypertension1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0100817Renovascular hypertension1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0100817Renovascular hypertension1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0100735Hypertensive crisis1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000822HP:0100735Hypertensive crisis1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0000822HP:0100735Hypertensive crisis1HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0000822HP:0100735Hypertensive crisis1IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0000822HP:0100735Hypertensive crisis1IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0000822HP:0100735Hypertensive crisis1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0000822HP:0000875Episodic hypertension1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0000822HP:0000875Episodic hypertension1LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0000822HP:0100817Renovascular hypertension1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0000822HP:0000875Episodic hypertension1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0000822HP:0100817Renovascular hypertension1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0100735Hypertensive crisis1MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0000822HP:0100817Renovascular hypertension1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000822HP:0100735Hypertensive crisis1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0000822HP:0100735Hypertensive crisis1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0000822HP:0100817Renovascular hypertension1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000822HP:0100817Renovascular hypertension1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0000822HP:0000875Episodic hypertension1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0000822HP:0100817Renovascular hypertension1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100735Hypertensive crisis1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0000822HP:0000875Episodic hypertension1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0000822HP:0000875Episodic hypertension1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0000822HP:0100735Hypertensive crisis1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0000822HP:0100817Renovascular hypertension1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100735Hypertensive crisis1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000822HP:0100735Hypertensive crisis1TLR7 CL E G H5128415631OMIM:301080
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0000822HP:0000875Episodic hypertension1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0000822HP:0100817Renovascular hypertension1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0000822HP:0100735Hypertensive crisis1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000822HP:0100817Renovascular hypertension1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0000822HP:0000875Episodic hypertension1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0000822HP:0002640Hypertension associated with pheochromocytoma1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0000822HP:0100817Renovascular hypertension1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000822HP:0100817Renovascular hypertension1XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0000822HP:0100817Renovascular hypertension1XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0000822HP:0100817Renovascular hypertension1YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0000822HP:0003574Positive regitine blocking test2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000822HP:0003574Positive regitine blocking test2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0000822HP:0003574Positive regitine blocking test2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0000822HP:0003574Positive regitine blocking test2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0000822HP:0003574Positive regitine blocking test2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0000822HP:0003574Positive regitine blocking test2KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0000822HP:0003574Positive regitine blocking test2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0000822HP:0003574Positive regitine blocking test2MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0000822HP:0003574Positive regitine blocking test2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0000822HP:0003574Positive regitine blocking test2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0000822HP:0003574Positive regitine blocking test2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0000822HP:0003574Positive regitine blocking test2RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0000822HP:0003574Positive regitine blocking test2RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0000822HP:0003574Positive regitine blocking test2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0000822HP:0003574Positive regitine blocking test2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0000822HP:0003574Positive regitine blocking test2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0000822HP:0003574Positive regitine blocking test2SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0000822HP:0003574Positive regitine blocking test2SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0000822HP:0003574Positive regitine blocking test2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0000822HP:0003574Positive regitine blocking test2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0000822HP:0003574Positive regitine blocking test2SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0000822HP:0003574Positive regitine blocking test2SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0000822HP:0003574Positive regitine blocking test2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000822HP:0003574Positive regitine blocking test2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0000822HP:0003574Positive regitine blocking test2TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0000822HP:0003574Positive regitine blocking test2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0000822HP:0003574Positive regitine blocking test2VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0000822HP:0003574Positive regitine blocking test2VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490


Genes (369) :ABCB4 ABCB6 ABCC6 ABCG5 ABCG8 ACAT1 ACP5 ACTA2 ACTN4 ACVRL1 ADA2 ADAMTSL4 AIP ALG5 ALG9 ALMS1 ALX4 ANGPTL6 APOA1 APOB APRT ARHGAP31 ARL6 ARMC5 ARVCF ATRX B2M BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BMPR2 BNC2 BRAF BRCA2 BRCC3 BSCL2 BUD23 C3 CACNA1D CACNA1H CAV1 CBS CC2D2A CCDC28B CCN2 CCND1 CCR6 CD2AP CD46 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CELA2A CEP164 CEP19 CEP290 CFAP418 CFB CFH CFHR1 CFHR3 CFI CIDEC CLCN2 CLIP2 COL3A1 COL4A3 COL4A4 COL4A5 COMT COQ7 CORIN COX1 COX2 COX3 CPOX CTLA4 CTNNB1 CUL3 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYTB DCDC2 DEF6 DHCR7 DIS3L2 DLST DNAJB11 DNAJC30 DNMT3A DST DYRK1B DZIP1L ECE1 EDA EDA2R EGFR EIF4H ELN ELP1 ENG ENPP1 EPAS1 ERCC4 ERCC6 ERCC8 EXT2 FBN1 FGA FGFR2 FH FIG4 FKBP6 FLT1 FMO3 FMR1 FN1 FOXE3 FUZ G6PC1 GANAB GATA5 GBA1 GCH1 GEMIN4 GJA1 GLA GNAS GP1BB GPC3 GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 H19 H4C3 HBB HEY2 HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMOX1 HPSE2 HSD11B2 HTRA1 IDS IDUA IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IL12B IMPDH2 INF2 INVS IQCB1 IRF5 ITGA8 JAK2 JMJD1C KCNJ5 KCTD1 KIF1B KLHL3 KRT18 LAMB2 LARS2 LBX1 LDLR LDLRAP1 LEMD3 LIMK1 LIPE LMNA LMX1B LOX LRIG2 LRP6 LYZ LZTFL1 MAFB MAT2A MAX MC4R MDH2 MDM2 MED12 MEF2A MEN1 METTL27 MFAP5 MGP MKKS MKS1 MLX MLXIPL MMP14 MMP2 MPL MTRR MTTP MUC1 MYH11 MYH7 MYLK MYMK MYMX NCF1 ND1 ND5 ND6 NDUFAF6 NF1 NFIX NKX2-5 NOD2 NOS3 NOTCH1 NOTCH2 NOTCH3 NPHP1 NPHP3 NPHP4 NR3C1 NR3C2 NR4A2 NSMCE2 OFD1 OSGEP PAM16 PAX2 PBX1 PCSK9 PDE11A PDE3A PDE8B PHF21A PIGA PKD1 PKD2 PKHD1 PLIN1 POR POU3F4 POU6F2 PPARG PPOX PRKACA PRKAR1A PRKG1 PRTN3 PTPN22 REST RET RFC2 RNU4ATAC RNU7-1 RREB1 SCAPER SCN2B SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SERPINA6 SH2B3 SLC25A11 SLC2A10 SLC30A9 SLC35A2 SLC37A4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCAL1 SPRY2 STAT1 STAT2 STOX1 STX1A SUGCT TBL2 TBX1 TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THSD1 TLR7 TMEM127 TMEM237 TMEM270 TMEM67 TMEM70 TNFRSF11A TNFRSF11B TOM1 TP53 TRAF3IP1 TREX1 TRIM28 TRIM32 TRIP13 TRNC TRNE TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPC6 TSC1 TSC2 TTC8 UFD1 USP48 USP8 VAC14 VANGL1 VHL VPS37D WDPCP WDR19 WDR35 WNK1 WNK4 WRN WT1 XPNPEP3 XYLT1 XYLT2 YY1AP1 ZMPSTE24 ZNRF3

Diseases (269) :ORPHA:69663 ORPHA:90044 OMIM:614473 ORPHA:51608 ORPHA:758 OMIM:264800 ORPHA:391665 ORPHA:134 ORPHA:1855 ORPHA:91387 OMIM:613834 OMIM:603278 OMIM:600376 ORPHA:820 OMIM:182410 OMIM:615688 ORPHA:1885 ORPHA:963 OMIM:219090 OMIM:102200 OMIM:620056 ORPHA:730 ORPHA:64 OMIM:203800 ORPHA:52022 ORPHA:231160 OMIM:105200 ORPHA:976 OMIM:100300 ORPHA:110 OMIM:209900 OMIM:615954 ORPHA:189427 ORPHA:567 ORPHA:96253 ORPHA:904 OMIM:178600 ORPHA:93110 ORPHA:654 ORPHA:280679 ORPHA:363400 OMIM:612925 OMIM:615474 ORPHA:369929 OMIM:617027 ORPHA:220393 OMIM:606721 ORPHA:394 OMIM:619111 ORPHA:892 OMIM:193300 OMIM:607832 OMIM:612922 ORPHA:91347 ORPHA:652 ORPHA:1501 OMIM:618620 ORPHA:3156 OMIM:615703 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:615238 ORPHA:404 OMIM:605635 ORPHA:286 OMIM:104200 OMIM:203780 OMIM:301050 OMIM:616733 ORPHA:275555 OMIM:540000 OMIM:121300 ORPHA:900 OMIM:614496 OMIM:202010 ORPHA:90795 ORPHA:403 OMIM:103900 OMIM:202110 ORPHA:90793 OMIM:201910 ORPHA:84081 OMIM:619573 OMIM:270400 ORPHA:29072 OMIM:618061 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 OMIM:133540 OMIM:216400 OMIM:616914 ORPHA:2833 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:3472 OMIM:602079 ORPHA:93256 ORPHA:449291 ORPHA:84090 OMIM:601894 ORPHA:3027 OMIM:232200 OMIM:600666 ORPHA:402075 OMIM:230800 ORPHA:98808 OMIM:617913 OMIM:600309 ORPHA:324 OMIM:301500 OMIM:219080 ORPHA:79443 OMIM:615750 ORPHA:401945 OMIM:619758 OMIM:603903 ORPHA:56 ORPHA:3287 ORPHA:79276 OMIM:176000 OMIM:614034 ORPHA:2704 OMIM:218030 ORPHA:320 OMIM:616779 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:615846 ORPHA:805 OMIM:266920 OMIM:613237 OMIM:602088 OMIM:191830 OMIM:133100 ORPHA:729 ORPHA:251274 OMIM:613677 OMIM:181270 ORPHA:2036 OMIM:256700 OMIM:171300 OMIM:614495 OMIM:215600 OMIM:609049 OMIM:617021 OMIM:619483 ORPHA:1306 ORPHA:1879 OMIM:615980 ORPHA:79474 ORPHA:79084 ORPHA:740 OMIM:151660 ORPHA:363618 ORPHA:2613 OMIM:610947 OMIM:166300 ORPHA:71529 OMIM:618681 OMIM:301068 OMIM:608320 OMIM:245150 ORPHA:371428 ORPHA:2169 OMIM:605552 OMIM:174000 ORPHA:437572 ORPHA:1358 OMIM:618913 ORPHA:97685 OMIM:162200 OMIM:602535 OMIM:186580 ORPHA:90340 OMIM:189800 OMIM:610205 ORPHA:136 OMIM:256100 ORPHA:786 OMIM:615962 OMIM:605115 OMIM:617253 OMIM:311200 ORPHA:2750 OMIM:617729 OMIM:613320 OMIM:120330 ORPHA:97362 ORPHA:1359 OMIM:610475 ORPHA:189439 ORPHA:1276 OMIM:112410 ORPHA:447 OMIM:173900 OMIM:613095 OMIM:263200 OMIM:613877 ORPHA:280356 ORPHA:95699 ORPHA:1435 OMIM:604367 ORPHA:79083 ORPHA:79473 OMIM:615830 OMIM:610489 OMIM:171400 OMIM:210710 OMIM:619487 OMIM:615378 ORPHA:526 OMIM:618126 OMIM:177200 OMIM:618114 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:611489 OMIM:618464 OMIM:208050 ORPHA:3342 OMIM:617595 OMIM:300896 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:2588 OMIM:139210 OMIM:242900 ORPHA:1830 OMIM:616818 ORPHA:391487 OMIM:618886 OMIM:231690 OMIM:612926 OMIM:301080 OMIM:614424 OMIM:216360 OMIM:614052 ORPHA:2801 ORPHA:247691 ORPHA:225 ORPHA:1349 OMIM:603965 OMIM:613610 OMIM:614492 OMIM:614491 ORPHA:902 ORPHA:220 OMIM:194080 ORPHA:347 OMIM:613159 ORPHA:79094 OMIM:602531
 

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