Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:1687
Name:Cardiac Conduction Defect
Definition:
Alternative IDs:OMIM:115080
ParentIDs:MESH:D001145
TreeNumbers:C14.280.067/C562490 |C23.550.073/C562490
Synonyms:FAMILIAL SUDDEN DEATH, INCLUDED |SCD, INCLUDED |SUDDEN CARDIAC DEATH, INCLUDED
Slim Mappings:Cardiovascular disease|Pathology (process)
Reference: MedGen: C562490
MeSH: C562490
OMIM: 115080;

Genes: AKAP10;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011675Arrhythmia
3 HP:0001699Sudden death
4 HP:0001279Syncope
Disease Causing ClinVar Variants