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
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- MitoTIP tRNA Scoring
- MSeq-OpenCGA
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- HBCR Exome (Retired)
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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: Arrhythmias, Cardiac (D001145)
..Starting node ..Heart Block (D006327)
Child Nodes:
........Adams-Stokes Syndrome (D000219)
........Atrial Septal Defect with Atrioventricular Conduction Defects (C566238) 1
........Atrial Standstill (C563984)
........Atrioventricular Block (D054537) 1
........Bundle-Branch Block (D002037) 1
........Congenital heart block (C535758) 1
........Heart Block, Nonprogressive (C566185)
........Hereditary bundle branch system defect (C566873)
........Progressive Familial Heart Block, Type Ib (C567037)
........Progressive Familial Heart Block, Type II (C564202)
........Sick Sinus Syndrome (D012804) 3
........Sinoatrial Block (D012848) 1
Sister Nodes:
..Arrhythmia, Sinus (D001146) 5
..Atrial Fibrillation (D001281) 8
..Atrial Flutter (D001282)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Bradycardia (D001919)
..Brugada Syndrome (D053840) 9
..Cardiac Arrhythmia, Ankyrin-B-Related (C566996)
..Cardiac Complexes, Premature (D005117) 4
..Cardiac Conduction Defect (C562490)
..Cardiac Conduction Defect, Nonprogressive (C566186)
..Commotio Cordis (D056104)
..Heart Block (D006327) 19
..Long QT Syndrome (D008133) 20
..Parasystole (D017574)
..Pre-Excitation Syndromes (D011226) 3
..QT INTERVAL, VARIATION IN (OMIM:610141)
..Short Qt Syndrome (C580439)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Tachycardia (D013610) 20
..Ventricular Fibrillation (D014693) 3
..Ventricular Flutter (D054141)
..Woodhouse Sakati syndrome (C536742)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4935
Name:	Heart Block
Definition:	Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.
Alternative IDs:
ParentIDs:	MESH:D001145
TreeNumbers:	C14.280.067.558 \|C23.550.073.425
Synonyms:	Atrioventricular Dissociation \|Atrioventricular Dissociations \|Auriculo Ventricular Dissociation \|Auriculo-Ventricular Dissociation \|Auriculo-Ventricular Dissociations \|A V Dissociation \|A-V Dissociation \|A-V Dissociations \|Block, Heart \|Blocks, Heart \|Dissociatio
Slim Mappings:	Cardiovascular disease\|Pathology (process)
Reference:	MedGen: D006327 MeSH: D006327 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants