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 ..Telangiectasis (D013684)
Child Nodes:
........Ataxia Telangiectasia (D001260) 6
........CREST Syndrome (D017675)
........Cutis marmorata telangiectatica congenita (C536226)
........Epilepsy telangiectasia (C535497)
........Frenkel Russe syndrome (C535638)
........Glomerulonephritis sparse hair telangiectases (C536825)
........Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
........Megalencephaly cutis marmorata telangiectatica congenita (C536142)
........Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
........Retinal Telangiectasis (D058456) 1
........REYNOLDS SYNDROME (OMIM:613471)
........Telangiectasia, Generalized Essential (C562998)
........Telangiectasia, Hereditary Benign (C562908)
........Telangiectasia, Hereditary Hemorrhagic (D013683) 4
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:	10902
Name:	Telangiectasis
Definition:	Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.
Alternative IDs:
ParentIDs:	MESH:D014652
TreeNumbers:	C14.907.823
Synonyms:	Spider Vein \|Spider Veins \|Telangiectases \|Telangiectasia \|Telangiectasias \|Vein, Spider \|Veins, Spider
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D013684 MeSH: D013684 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants