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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 2D
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Accession:DOID:0081160 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: CMD2D
 primary_id: MIM:619371
 alt_id: DOID:9003609


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dilated cardiomyopathy 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D OMIM
ClinVar		 PMID:25741868 PMID:32514796 PMID:32870709 PMID:35323613 PMID:37308880 NCBI chr10:14,258,446...14,268,989
Ensembl chr10:14,258,418...14,268,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      thoracic disease 4057
        heart disease 3483
          Cardiomegaly 954
            dilated cardiomyopathy 549
              dilated cardiomyopathy 2D 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            cardiomyopathy 1441
              intrinsic cardiomyopathy 1027
                dilated cardiomyopathy 549
                  dilated cardiomyopathy 2D 1
paths to the root