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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 CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
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Accession:DOID:9006177 term browser browse the term
Definition:This disease is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Various ectodermal abnormalities may be present in patients.
Synonyms:exact_synonym: ARCME
 primary_id: MIM:620519



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ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities OMIM
ClinVar
PMID:25741868 PMID:28069640 PMID:32666529 PMID:35924320 PMID:35933355 NCBI chr 1:88,139,000...88,158,714 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      thoracic disease 4050
        heart disease 3477
          cardiomyopathy 1430
            ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      respiratory system disease 5242
        thoracic disease 4050
          heart disease 3477
            cardiomyopathy 1430
              ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES 1
paths to the root