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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 1OO
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Accession:DOID:9006997 term browser browse the term
Definition:A disease characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Caused by heterozygous mutation in the VEZF1 gene on chromosome 17q22.
Synonyms:exact_synonym: CMD1OO
 primary_id: OMIM:620247

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Dilated Cardiomyopathy 1OO term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VEZF1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO ClinVar
OMIM		 PMID:36657711 NCBI chr16:35,411,805...35,428,423
Ensembl chr16:35,411,738...35,428,419 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      cardiovascular system disease 4267
        heart disease 2972
          Cardiomegaly 730
            dilated cardiomyopathy 441
              Dilated Cardiomyopathy 1OO 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      cardiovascular system disease 4267
        heart disease 2972
          cardiomyopathy 1198
            intrinsic cardiomyopathy 871
              dilated cardiomyopathy 441
                Dilated Cardiomyopathy 1OO 1
paths to the root