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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 1M
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Accession:DOID:0110449 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMD1M
 primary_id: MESH:C564390
 alt_id: OMIM:607482
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1M term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO OMIM NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,618
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    Developmental Diseases 8921
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7781
        genetic disease 7335
          monogenic disease 5405
            dilated cardiomyopathy 1M 1
Path 2
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      cardiovascular system disease 3335
        heart disease 2375
          cardiomyopathy 1005
            intrinsic cardiomyopathy 682
              dilated cardiomyopathy 262
                dilated cardiomyopathy 1M 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.