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: Vascular Diseases (D014652)
..Starting node ..Hyperemia (D006940)
Child Nodes:
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:	5368
Name:	Hyperemia
Definition:	The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).
Alternative IDs:
ParentIDs:	MESH:D014652
TreeNumbers:	C14.907.474
Synonyms:	Active Hyperemia \|Arterial Hyperemia \|Congestion, Venous \|Engorgement, Venous \|Hyperemia, Active \|Hyperemia, Arterial \|Hyperemia, Passive \|Hyperemia, Reactive \|Hyperemias \|Hyperemias, Reactive \|Passive Hyperemia \|Reactive Hyperemia \|Reactive Hyperemias \|Venous Conges
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D006940 MeSH: D006940 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants