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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 1FF
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Accession:DOID:0110459 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. (DO)
Synonyms:exact_synonym: CMD1FF
 primary_id: MESH:C567654
 alt_id: OMIM:613286


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1FF term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF		 OMIM
CTD
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10806205 PMID:11735257 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            dilated cardiomyopathy 1FF 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                dilated cardiomyopathy 1FF 2
paths to the root