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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 1EE
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Accession:DOID:0110453 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)
Synonyms:exact_synonym: CMD1EE
 primary_id: MESH:C567683
 alt_id: OMIM:613252;   RDO:0015688
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1EE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by OMIM:613252
ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE
OMIM
ClinVar
PMID:15998695, PMID:20215591, PMID:20656787, PMID:22194935, PMID:22361390, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24119082, PMID:24503780, PMID:25163546, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27194543, PMID:28088328, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            dilated cardiomyopathy 1EE 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        heart disease 2667
          cardiomyopathy 1088
            intrinsic cardiomyopathy 737
              dilated cardiomyopathy 299
                dilated cardiomyopathy 1EE 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.