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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
 primary_id: MESH:C580047
 alt_id: DOID:0060561;   OMIM:302045


show annotations for term's descendants           Sort by:
X-linked dilated cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED		 OMIM
CTD
ClinVar		 PMID:2691353 PMID:7599638 PMID:7881286 PMID:8789442 PMID:8840119 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED 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: CARDIOMYOPATHY, DILATED, X-LINKED 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
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 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            X-linked monogenic disease 1369
              X-linked dilated cardiomyopathy 6
                dilated cardiomyopathy 3B 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                X-linked dilated cardiomyopathy 6
                  dilated cardiomyopathy 3B 6
paths to the root