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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 3B
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Accession:DOID:0081164 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. (DO)
Synonyms:primary_id: OMIM:302045



show annotations for term's descendants           Sort by:
dilated cardiomyopathy 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B OMIM
ClinVar
PMID:1549596 PMID:1644931 PMID:2691353 PMID:7581396 PMID:7599638 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            X-linked monogenic disease 1358
              X-linked dilated cardiomyopathy 6
                dilated cardiomyopathy 3B 6
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      cardiovascular system disease 5393
        heart disease 3311
          cardiomyopathy 1291
            intrinsic cardiomyopathy 900
              dilated cardiomyopathy 452
                X-linked dilated cardiomyopathy 6
                  dilated cardiomyopathy 3B 6
paths to the root