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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:essential hypertension
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Accession:DOID:10825 term browser browse the term
Definition:A hypertension with no known cause. It is the most common type of hypertension. (DO)
Synonyms:exact_synonym: EHT;   HYPERTENSION, ESSENTIAL, BODY MASS-RELATED;   HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED;   idiopathic hypertension;   primary hypertension
 related_synonym: HYT1;   HYT2;   HYT3;   HYT4;   HYT5;   HYT6;   HYT7;   HYT8;   Hypertension, salt-sensitive essential, susceptibility to;   essential hypertension, susceptibility to;   essential hypertension, susceptibility to, 1;   essential hypertension, susceptibility to, 2;   essential hypertension, susceptibility to, 3;   essential hypertension, susceptibility to, 4;   essential hypertension, susceptibility to, 5;   essential hypertension, susceptibility to, 6;   essential hypertension, susceptibility to, 7;   essential hypertension, susceptibility to, 8
 primary_id: MESH:C562386
 alt_id: OMIM:145500;   OMIM:603918;   OMIM:604329;   OMIM:607329;   OMIM:608742;   OMIM:610261;   OMIM:610262;   OMIM:610948;   OMIM:611014
 xref: ICD10CM:I10;   ICD9CM:401;   NCI:C3478;   ORDO:243761
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
essential hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm3 acyl-CoA synthetase medium-chain family member 3 no_association ISO RGD PMID:11592044 RGD:1579978 NCBI chr 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224
JBrowse link
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to OMIM
ClinVar
PMID:9149697, PMID:9607177, PMID:10024330, PMID:21692745, PMID:22992668 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Hypertension, essential, susceptibility to OMIM
ClinVar
PMID:7649545, PMID:7883995, PMID:8348146, PMID:8513325, PMID:8518804, PMID:9120024, PMID:9259580, PMID:9421481, PMID:9831339, PMID:9894356, PMID:13937884, PMID:15077204, PMID:16059745, PMID:17047091, PMID:20978123, PMID:25741868 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment ISO ClinVar Annotator: match by term: Hypertension, essential, susceptibility to OMIM
ClinVar
PMID:8021009, PMID:9084931, PMID:15042429, PMID:17668390, PMID:18604484 RGD:10047396 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO OMIM NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 susceptibility ISO DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) RGD PMID:20687374 RGD:13507310 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 ISO protein:increased expression:plasma (human) RGD PMID:14654753 RGD:13800915 NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
JBrowse link
G Cat catalase ISO RGD PMID:15735318 RGD:1581147 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to OMIM
ClinVar
PMID:11279519, PMID:11740341, PMID:12065767, PMID:12754175, PMID:15492926 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO OMIM NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Eln elastin ISS OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 MouseDO NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gata5 GATA binding protein 5 ISS OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 MouseDO NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Gnb3 G protein subunit beta 3 ISO OMIM NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Grk4 G protein-coupled receptor kinase 4 susceptibility ISO DNA:SNP,haplotypes:cds: RGD PMID:15097232, PMID:15097232 RGD:1598505, RGD:1598505 NCBI chr14:81,261,708...81,339,516
Ensembl chr14:81,265,672...81,339,526
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine: RGD PMID:22923545 RGD:7245500 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:urine: RGD PMID:22923545 RGD:7245500 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:repeats:intron:IVS13+?-?dupCA (human)
DNA:snp:cds:p.E298D (human)
OMIM PMID:9084930, PMID:11394896 RGD:1580277, RGD:1580280 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma: RGD PMID:9350073 RGD:7246914 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO DNA:repeat:intron:IVS2+150(GT)10-11 (human) RGD PMID:10082481 RGD:1580772 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Ptgis prostaglandin I2 synthase ISO ClinVar Annotator: match by OMIM:145500 OMIM
ClinVar
PMID:12372404 NCBI chr 3:163,950,746...163,986,129 JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO protein:increased expression:serum: RGD PMID:24047472 RGD:15036820 NCBI chr 4:78,205,809...78,208,956
Ensembl chr 4:78,205,812...78,208,767
JBrowse link
G Rgs5 regulator of G-protein signaling 5 ISO OMIM NCBI chr13:87,966,820...88,002,831
Ensembl chr13:87,966,758...88,003,035
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) RGD PMID:17216203 RGD:7327177 NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
JBrowse link
G Slc12a3 solute carrier family 12 member 3 severity ISO DNA:missense mutation:cds:p.R904Q (human)
DNA:snp:intron:g.1784C>T (human)
RGD PMID:15480096, PMID:15824464 RGD:1580589, RGD:1580586 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Essential hypertension ClinVar NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          hypertension 1493
            essential hypertension 26
              benign essential hypertension 0
              malignant essential hypertension 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          artery disease 2364
            hypertension 1493
              essential hypertension 26
                benign essential hypertension 0
                malignant essential hypertension 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.