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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: dilated cardiomyopathy, autosomal recessive
 primary_id: MESH:C567505
 alt_id: OMIM:611880


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A		 OMIM
CTD
ClinVar		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 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 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          Cardiomegaly 869
            dilated cardiomyopathy 463
              dilated cardiomyopathy 2A 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                dilated cardiomyopathy 2A 3
paths to the root