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dilated cardiomyopathy 1P - Ontology Report - Rat Genome Database

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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 1P
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Accession:DOID:0110439 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: CMD1P
 broad_synonym: PLN-RELATED CONDITION
 primary_id: MESH:C563690
 alt_id: MIM:609909
 xref: NCI:C173625

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dilated cardiomyopathy 1P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P | ClinVar Annotator: match by term: PLN-related condition ClinVar PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16432188 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1P | ClinVar Annotator: match by term: PLN-related condition		 OMIM
CTD
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16432188 More... NCBI chr20:32,629,537...32,639,559 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            dilated cardiomyopathy 1P 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        thoracic disease 4046
          heart disease 3473
            cardiomyopathy 1430
              intrinsic cardiomyopathy 1018
                dilated cardiomyopathy 539
                  dilated cardiomyopathy 1P 2
paths to the root