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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
 primary_id: MESH:C563690
 alt_id: OMIM: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 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695 		JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1P OMIM
ClinVar		 PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 More... NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            dilated cardiomyopathy 1P 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      cardiovascular system disease 4328
        heart disease 3042
          cardiomyopathy 1231
            intrinsic cardiomyopathy 873
              dilated cardiomyopathy 442
                dilated cardiomyopathy 1P 2
paths to the root