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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 1X
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Accession:DOID:0110444 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: CMD1X;   dilated cardiomyopathy, with mild or no proximal muscle weakness
 primary_id: MESH:C566907
 alt_id: OMIM:611615;   RDO:0015120
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by OMIM:611615
ClinVar Annotator: match by term: Dilated cardiomyopathy 1X
OMIM
ClinVar
PMID:9690476 PMID:11153909 PMID:11165248 PMID:14627679 PMID:15103718 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      cardiovascular system disease 4525
        heart disease 2702
          Cardiomegaly 675
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1X 1
Path 2
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
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                dilated cardiomyopathy 1X 1
paths to the root