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RGD uses the Human Disease Ontology (DO, 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
 primary_id: MESH:C567506
 alt_id: OMIM:611879
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 OMIM:611879
ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z
PMID:11385718, PMID:15542288, PMID:16302972, PMID:18042489, PMID:18063575, PMID:18285522, PMID:18572189, PMID:18820258, PMID:19439414, PMID:19506933, PMID:20215591, PMID:20459070, PMID:21056975, PMID:21832052, PMID:22489623, PMID:22815480, PMID:23008774, PMID:23425245, PMID:23633581, PMID:24033266, PMID:24260207, PMID:24744096, PMID:25741868, PMID:26304555, PMID:26341255, PMID:26529187, PMID:26779504, PMID:26899768, PMID:26976709, PMID:27574918, PMID:27604170, PMID:27721798, PMID:28473771, PMID:28492532, PMID:28530094, PMID:28533433, PMID:28798025, PMID:29121657, PMID:30165862, PMID:30188508 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            dilated cardiomyopathy 1Z 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 298
                dilated cardiomyopathy 1Z 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.