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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 1Z
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Accession:DOID:0110434 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. (DO)
Synonyms:exact_synonym: CMD1Z
 broad_synonym: TNNC1-RELATED CONDITION
 xref: MESH:C567506;   MIM:611879;   MONDO:0012745


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dilated cardiomyopathy 1Z term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z | ClinVar Annotator: match by term: TNNC1-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11385718 PMID:15542288 PMID:16199547 PMID:16302972 More... NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13713
        genetic disease 13378
          monogenic disease 10937
            dilated cardiomyopathy 1Z 1
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      respiratory system disease 5247
        thoracic disease 4053
          heart disease 3481
            cardiomyopathy 1435
              intrinsic cardiomyopathy 1025
                dilated cardiomyopathy 541
                  dilated cardiomyopathy 1Z 1
paths to the root