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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
 broad_synonym: TPM1-RELATED CONDITION
 primary_id: MESH:C567507
 alt_id: MIM:611878

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dilated cardiomyopathy 1Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y ClinVar PMID:28492532 NCBI chr  X:60,915,796...60,939,220
Ensembl chr  X:60,915,703...60,937,677 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition OMIM
ClinVar		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      thoracic disease 3682
        heart disease 3145
          Cardiomegaly 811
            dilated cardiomyopathy 520
              dilated cardiomyopathy 1Y 2
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      respiratory system disease 4790
        thoracic disease 3682
          heart disease 3145
            cardiomyopathy 1325
              intrinsic cardiomyopathy 982
                dilated cardiomyopathy 520
                  dilated cardiomyopathy 1Y 2
paths to the root