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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: Cardiomyopathies (D009202)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Heart Block (D006327)
..Starting node ..Atrial Standstill (C563984)
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:

1038

Name:

Atrial Standstill

Definition:

Alternative IDs:

OMIM:108770

ParentIDs:

MESH:D006327|MESH:D009202|MESH:D030342

TreeNumbers:

C14.280.067.558/C563984 |C14.280.238/C563984 |C16.320/C563984 |C23.550.073.425/C563984

Synonyms:

Atrial Cardiomyopathy with Heart Block |ATRIAL STANDSTILL 1 |ATRST1 |Cardiomyopathy, Familial, with Conduction Disturbance

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Pathology (process)

Reference:

MedGen: C563984
MeSH: C563984
OMIM: 108770;

Genes: GJA5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0200127	Atrial cardiomyopathy
3	HP:0025478	Atrial standstill
4	HP:0001706	Endocardial fibroelastosis
5	HP:0011705	First degree atrioventricular block
6	HP:0006699	Premature atrial contractions

Disease Causing ClinVar Variants