| Metadata | |
|---|---|
| ID | DOID:0111700 |
| Name | ankyrin-B-related cardiac arrhythmia |
| Definition | A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15178757, https://www.ncbi.nlm.nih.gov/pubmed/17242276 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ankyrin-B syndrome [EXACT] |
| Parent Relationships |
is_a heart disease |