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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:dilated cardiomyopathy 1E
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Accession:DOID:0110433 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. (DO)
Synonyms:exact_synonym: CDCD2;   CMD1E;   Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia;   dilated cardiomyopathy with conduction defect 2
 primary_id: MESH:C563384
 alt_id: OMIM:601154;   RDO:0012654
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA
ClinVar Annotator: match by term: Dilated cardiomyopathy 1E
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2
OMIM
ClinVar
PMID:2107088 PMID:3953067 PMID:8661019 PMID:9536098 PMID:10508990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      cardiovascular system disease 4520
        heart disease 2697
          Cardiomegaly 676
            dilated cardiomyopathy 301
              dilated cardiomyopathy 1E 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
                dilated cardiomyopathy 1E 1
paths to the root