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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 ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z | ClinVar Annotator: match by term: TNNC1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11385718 PMID:15542288 PMID:16199547 PMID:16302972 More... NCBI chrNW_004936473:3,290,961...3,293,920
Ensembl chrNW_004936473:3,290,913...3,294,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14636
    Developmental Disease 12843
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12085
        genetic disease 11804
          monogenic disease 10135
            dilated cardiomyopathy 1Z 1
Path 2
Term Annotations click to browse term
  disease 14636
    disease of anatomical entity 14326
      respiratory system disease 4641
        thoracic disease 3570
          heart disease 3049
            cardiomyopathy 1286
              intrinsic cardiomyopathy 959
                dilated cardiomyopathy 510
                  dilated cardiomyopathy 1Z 1
paths to the root