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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 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 2A
ClinVar Annotator: match by OMIM:611880
OMIM
ClinVar
PMID:3144325, PMID:9241277, PMID:10806205, PMID:11735257, PMID:11815426, PMID:12707239, PMID:12860912, PMID:15070570, PMID:15524171, PMID:15607392, PMID:15698845, PMID:15992656, PMID:16020591, PMID:16199542, PMID:16352453, PMID:18006163, PMID:18175163, PMID:18467357, PMID:18533079, PMID:19590045, PMID:20057144, PMID:20641121, PMID:21310275, PMID:21511876, PMID:21533915, PMID:22876777, PMID:23270746, PMID:23283745, PMID:23610579, PMID:23967088, PMID:24033266, PMID:24111713, PMID:24113344, PMID:24510615, PMID:25132132, PMID:25228707, PMID:25324519, PMID:25351510, PMID:25524337, PMID:25741868, PMID:25940119, PMID:26440512, PMID:26688388, PMID:27532257, PMID:27600940, PMID:28138913, PMID:28166811, PMID:28193612, PMID:28492532, PMID:28771489, PMID:28790153, PMID:31568572 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          Cardiomegaly 668
            dilated cardiomyopathy 298
              dilated cardiomyopathy 2A 3
Path 2
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
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                dilated cardiomyopathy 2A 3
paths to the root

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