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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 2A
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Accession:DOID:0110460 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE;   CMD2A
 narrow_synonym: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE
 primary_id: MESH:C567505
 alt_id: OMIM:611880;   RDO:0015565
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A OMIM
ClinVar
PMID:3144325 PMID:9241277 PMID:10806205 PMID:11735257 PMID:11815426 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        heart disease 2702
          Cardiomegaly 675
            dilated cardiomyopathy 300
              dilated cardiomyopathy 2A 3
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                dilated cardiomyopathy 2A 3
paths to the root