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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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613252
ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            dilated cardiomyopathy 1EE 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      cardiovascular system disease 5413
        heart disease 3328
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                dilated cardiomyopathy 1EE 1
paths to the root