Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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 ClinVar Annotator: match by term: Dilated cardiomyopathy 3B
ClinVar Annotator: match by OMIM:302045
OMIM
ClinVar
PMID:1644931, PMID:2677830, PMID:2691353, PMID:7599638, PMID:7825571, PMID:7881286, PMID:7981747, PMID:8123157, PMID:8223790, PMID:8361506, PMID:8652023, PMID:8789442, PMID:8902723, PMID:9170393, PMID:9170407, PMID:9224530, PMID:9544849, PMID:9683584, PMID:10094565, PMID:10909857, PMID:11404124, PMID:11524473, PMID:11879882, PMID:12354438, PMID:12359139, PMID:12632325, PMID:12794683, PMID:14600829, PMID:14695533, PMID:15351422, PMID:15643612, PMID:16770791, PMID:17041906, PMID:17259292, PMID:17854090, PMID:18583217, PMID:18652600, PMID:18663755, PMID:19158079, PMID:19206170, PMID:19367636, PMID:19409785, PMID:19602481, PMID:19760747, PMID:19793655, PMID:19937601, PMID:19959795, PMID:20485447, PMID:20696926, PMID:21104870, PMID:21396098, PMID:21399986, PMID:21515508, PMID:21520333, PMID:21969337, PMID:22223181, PMID:22678781, PMID:23092449, PMID:23251671, PMID:23263593, PMID:23299917, PMID:23352160, PMID:23453023, PMID:23756440, PMID:23757202, PMID:23871722, PMID:24033266, PMID:24690944, PMID:25007885, PMID:25163546, PMID:25231023, PMID:25333069, PMID:25447171, PMID:25474345, PMID:25525159, PMID:25636106, PMID:25637381, PMID:25741868, PMID:26260725, PMID:26284620, PMID:26467025, PMID:26743743, PMID:26990548, PMID:27122458, PMID:27593222, PMID:27708273, PMID:27750387, PMID:27930565, PMID:28181471, PMID:28318817, PMID:28492532, PMID:28580208, PMID:28701297, PMID:28859693, PMID:29511324, PMID:30086531, PMID:30311386, PMID:30415094, PMID:31333075, PMID:31568572 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
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, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link

Term paths to the root
Path 1
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
            X-linked monogenic disease 920
              X-linked dilated cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 298
                X-linked dilated cardiomyopathy 5
paths to the root

NHLBI Logo

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