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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, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (C565359)
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:

5488

Name:

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy

Definition:

Alternative IDs:

OMIM:605115

ParentIDs:

MESH:D006973

TreeNumbers:

C14.907.489/C565359

Synonyms:

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: C565359
MeSH: C565359
OMIM: 605115;

Genes: NR3C2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004319	Decreased circulating aldosterone level
3	HP:0003351	Decreased circulating renin level
4	HP:0000822	Hypertension
5	HP:0008071	Maternal hypertension

Disease Causing ClinVar Variants