Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
- mvTool
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Cardiovascular Diseases (D002318)
..Starting node ..Vascular Diseases (D014652)
Child 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
Sister Nodes:
..Cardiovascular Abnormalities (D018376) 331
..Cardiovascular Infections (D053821) 5
..Heart Diseases (D006331) 593
..Pregnancy Complications, Cardiovascular (D011249) 1
..Vascular Diseases (D014652) 444
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11527
Name:	Vascular Diseases
Definition:	Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.
Alternative IDs:
ParentIDs:	MESH:D002318
TreeNumbers:	C14.907
Synonyms:	Diseases, Vascular \|Disease, Vascular \|Vascular Disease
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D014652 MeSH: D014652 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants