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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:X-linked dilated cardiomyopathy
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Accession:DOID:0110461 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)
Synonyms:exact_synonym: CMD3B;   DMD-associated dilated cardiomyopathy;   DMD-related dilated cardiomyopathy;   XLCM;   dilated cardiomyopathy 3B
 primary_id: MESH:C580047
 alt_id: DOID:0060561;   OMIM:302045
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked dilated cardiomyopathy 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
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED
ClinVar Annotator: match by OMIM:302045
OMIM
ClinVar
PMID:1549596 PMID:1644931 PMID:2691353 PMID:7599638 PMID:7825571 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 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 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 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            X-linked monogenic disease 1028
              X-linked dilated cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      cardiovascular system disease 4542
        heart disease 2705
          cardiomyopathy 1094
            intrinsic cardiomyopathy 735
              dilated cardiomyopathy 302
                X-linked dilated cardiomyopathy 5
paths to the root