Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
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- Panel Tool:
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- Pedigree Maker
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Phenome-Disease
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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: Urticaria (D014581)
Parent Node: Vascular Diseases (D014652)
..Starting node ..Angioedema (D000799)
Child Nodes:
........Acquired angioedema (C538173)
........Angioedemas, Hereditary (D054179) 2
........Vibratory angioedema (C536347)
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:	681
Name:	Angioedema
Definition:	Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.
Alternative IDs:
ParentIDs:	MESH:D014581\|MESH:D014652
TreeNumbers:	C14.907.079 \|C17.800.862.945.066 \|C20.543.480.904.066
Synonyms:	Angioedemas \|Angioneurotic Edema \|Angioneurotic Edemas \|Edema, Angioneurotic \|Edema, Quincke's \|Edemas, Angioneurotic \|Giant Urticaria \|Giant Urticarias \|Quincke Edema \|Quincke's Edema \|Quinckes Edema \|Urticaria, Giant \|Urticarias, Giant
Slim Mappings:	Cardiovascular disease\|Immune system disease\|Skin disease
Reference:	MedGen: D000799 MeSH: D000799 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants