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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 1Y
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Accession:DOID:0110457 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. (DO)
Synonyms:exact_synonym: CMD1Y
 narrow_synonym: LEFT VENTRICULAR NONCOMPACTION 9;   LVNC9
 primary_id: MESH:C567507
 alt_id: OMIM:611878;   RDO:0015567
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by OMIM:611878
ClinVar Annotator: match by synonym: Left ventricular noncompaction 9
ClinVar Annotator: match by term: Left ventricular noncompaction 9
ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y
OMIM
ClinVar
PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1Y 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                dilated cardiomyopathy 1Y 1
paths to the root