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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Hypertension (D006973)
..Starting node ..Hypertension, Essential (C562386)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Brachydactyly with hypertension (C537095)
..Faye-Petersen Ward Carey syndrome (C537076)
..Hypertension Resistant to Conventional Therapy (C563514)
..Hypertension, Diastolic, Resistance to (C563897)
..Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (C565359)
..Hypertension, Essential (C562386)
..Hypertension, Malignant (D006974)
..Hypertension, Pregnancy-Induced (D046110) 7
..Hypertension, Renal (D006977) 3
..Hypertensive Retinopathy (D058437)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Kallikrein hypertension (C537707)
..Masked Hypertension (D059468)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..White Coat Hypertension (D059466)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5489

Name:

Hypertension, Essential

Definition:

Alternative IDs:

ParentIDs:

MESH:D006973

TreeNumbers:

C14.907.489/C562386

Synonyms:

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: C562386
MeSH: C562386
OMIM: 145500;

Genes: ADD1; AGT; AGTR1; ATP1B1; CYP3A5; ECE1; GNB3; NOS2; NOS3; PTGIS; RGS5; SELE;

Phenotypes

1	HP:0005117	Elevated diastolic blood pressure
2	HP:0004972	Elevated mean arterial pressure
3	HP:0004421	Elevated systolic blood pressure
4	HP:0001426	Multifactorial inheritance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_003361.3(UMOD):c.-1746T>C	7369	UMOD	association	13333226	RCV000203590;	N	MedGen:C0085580,OMIM:145500,SNOMED CT:59621000	16	20365654	20365654	NM_003361.3:c.-1746T>C		NC_000016.9:g.20365654A>G	-	C0085580 145500 Essential hypertension