Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Vascular Diseases (D014652)
..Starting node ..Hypertension (D006973)
Child 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)
Sister Nodes:
..Aneurysm (D000783) 43
..Angiodysplasia (D016888) 2
..Angioedema (D000799) 5
..Angiomatosis (D000798) 10
..Aortic Diseases (D001018) 25
..Arterial Dissection with Lentiginosis (C563937)
..Arterial Occlusive Diseases (D001157) 39
..Arteriovenous Malformations (D001165) 12
..Arteritis (D001167) 7
..Calcification of Joints and Arteries (C565891)
..Capillary Leak Syndrome (D019559) 1
..CAROTID INTIMAL MEDIAL THICKNESS 2 (OMIM:608447)
..Cerebrovascular Disorders (D002561) 108
..Colitis, Ischemic (D017091)
..Compartment Syndromes (D003161) 3
..Coronary Artery Dissection, Spontaneous (C565153)
..Diabetic Angiopathies (D003925) 9
..Embolism and Thrombosis (D016769) 34
..Hand-Arm Vibration Syndrome (D053421)
..Hemorrhoids (D006484)
..Hemostatic Disorders (D020141) 48
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hyperemia (D006940)
..Hypertension (D006973) 28
..Hypotension (D007022) 5
..Mesenteric Ischemia (D065666)
..Myocardial Ischemia (D017202) 28
..Optic Neuropathy, Ischemic (D018917) 1
..Pancytopenia and Occlusive Vascular Disease (C566836)
..Peripheral Vascular Diseases (D016491) 17
..Prehypertension (D058246)
..Pulmonary Veno-Occlusive Disease (D011668)
..Reperfusion Injury (D015427) 2
..Retinal Vein Occlusion (D012170)
..Scimitar Syndrome (D012587) 1
..Spinal Cord Vascular Diseases (D020758) 3
..Splenic Infarction (D013159)
..Superior Vena Cava Syndrome (D013479)
..Telangiectasis (D013684) 25
..Thoracic Outlet Syndrome (D013901) 2
..Varicocele (D014646)
..Varicose Veins (D014648) 2
..Vascular Fistula (D016157) 7
..Vascular Hyalinosis (C564750)
..Vascular Neoplasms (D019043)
..Vascular System Injuries (D057772)
..Vasculitis (D014657) 43
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vasoplegia (D056987)
..Venous Insufficiency (D014689) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5486
Name:	Hypertension
Definition:	Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Alternative IDs:
ParentIDs:	MESH:D014652
TreeNumbers:	C14.907.489
Synonyms:	Blood Pressure, High \|Blood Pressures, High \|High Blood Pressure \|High Blood Pressures
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D006973 MeSH: D006973 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants