Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Heart Block (D006327)
..Starting node ..Hereditary bundle branch system defect (C566873)
Child Nodes:
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5107
Name:	Hereditary bundle branch system defect
Definition:
Alternative IDs:
ParentIDs:	MESH:D006327
TreeNumbers:	C14.280.067.558/C566873 \|C23.550.073.425/C566873
Synonyms:	Cardiac conduction defect, progressive \|Heart block progressive, familial \|Heart block, progressive familial, type 1 \|Heart Block, Progressive Familial, Type I \|Lenegre Lev disease \|Lenegre-Lev Disease \|Pfhb1a \|Pfhbi \|PfhbIa \|Progressive Familial Heart Block, Typ
Slim Mappings:	Cardiovascular disease\|Pathology (process)
Reference:	MedGen: C566873 MeSH: C566873 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants