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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 1G
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Accession:DOID:0110430 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: CMD1G
 primary_id: MESH:C565824
 alt_id: OMIM:604145
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21681106 PMID:22335739 NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
ClinVar Annotator: match by OMIM:604145
OMIM
ClinVar
PMID:1745277 PMID:9536098 PMID:9804419 PMID:10051295 PMID:10053013 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            dilated cardiomyopathy 1G 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      cardiovascular system disease 4525
        heart disease 2702
          cardiomyopathy 1096
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 300
                dilated cardiomyopathy 1G 2
paths to the root