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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 PMID:7881286 PMID:8123157 PMID:8281150 PMID:8361506 PMID:8589698 PMID:8789442 PMID:9170407 PMID:9536098 PMID:9544849 PMID:9683584 PMID:10094565 PMID:10909857 PMID:11524473 PMID:12354438 PMID:12359139 PMID:12632325 PMID:12794683 PMID:14695533 PMID:15351422 PMID:15643612 PMID:16770791 PMID:17041906 PMID:17259292 PMID:17576681 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:21969337 PMID:22223181 PMID:22678781 PMID:23251671 PMID:23299917 PMID:23352160 PMID:23453023 PMID:23536893 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:28701297 PMID:28859693 PMID:29511324 PMID:30086531 PMID:30415094 PMID:30564623 PMID:31333075 PMID:31412794 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 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase 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 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            X-linked monogenic disease 1010
              X-linked dilated cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      cardiovascular system disease 4404
        heart disease 2666
          cardiomyopathy 1072
            intrinsic cardiomyopathy 726
              dilated cardiomyopathy 297
                X-linked dilated cardiomyopathy 5
paths to the root