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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ankyrin-B-related cardiac arrhythmia
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Accession:DOID:0111700 term browser browse the term
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 ANK2 on chromosome 4q25-q26. (DO)
Synonyms:exact_synonym: Ankyrin-B Syndrome
 primary_id: MESH:C566996
 alt_id: OMIM:600919
 xref: GARD:13294
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Pathological Conditions, Signs and Symptoms 10261
      Pathologic Processes 6709
        Cardiac Arrhythmias 594
          ankyrin-B-related cardiac arrhythmia 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                ankyrin-B-related cardiac arrhythmia 1
paths to the root