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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:arrhythmogenic right ventricular dysplasia 8
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Accession:DOID:0110076 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)
Synonyms:exact_synonym: ARVC8;   ARVD8;   arrhythmogenic right ventricular cardiomyopathy 8;   arrhythmogenic right ventricular cardiomyopathy, type 8;   familial arrhythmogenic right ventricular dysplasia 8
 primary_id: MESH:C564400
 alt_id: OMIM:607450;   RDO:0013377
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by OMIM:607450
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
OMIM
ClinVar
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:12373648 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22555271 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23671136 PMID:23810894 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24448499 PMID:24503780 PMID:24704780 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26230511 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28442525 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28759816 PMID:28798025 PMID:29062697 PMID:29420653 PMID:29511324 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29915097 PMID:30286183 PMID:30354334 PMID:30382575 PMID:30731207 PMID:30775854 PMID:30820396 PMID:31118017 PMID:31264976 PMID:31333075 PMID:31568572 PMID:31737537 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      congenital heart disease 1078
        arrhythmogenic right ventricular cardiomyopathy 96
          arrhythmogenic right ventricular dysplasia 8 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                arrhythmogenic right ventricular dysplasia 8 1
paths to the root