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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 1M
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Accession:DOID:0110449 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMD1M
 primary_id: MESH:C564390
 alt_id: OMIM:607482
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1M term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine-rich protein 3 ISO
IEA
ClinVar Annotator: match by term: Dilated cardiomyopathy 1M
OMIM:607482
OMIM
ClinVar
MouseDO
PMID:9039266, PMID:12507422, PMID:12642359, PMID:14567970, PMID:15781201, PMID:16352453, PMID:17084280, PMID:18505755, PMID:19035361, PMID:20044516, PMID:20474083, PMID:22337857, PMID:22429680, PMID:23299917, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:25351510, PMID:25741868, PMID:26656175, PMID:27353086, PMID:27532257, PMID:28492532, PMID:28790153, PMID:30012424, PMID:30048712 NCBI chr 7:48,830,398...48,848,051
Ensembl chr 7:48,830,398...48,848,033
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    Developmental Diseases 9393
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8205
        genetic disease 7742
          monogenic disease 5663
            dilated cardiomyopathy 1M 1
Path 2
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      cardiovascular system disease 3586
        heart disease 2565
          cardiomyopathy 1112
            intrinsic cardiomyopathy 745
              dilated cardiomyopathy 310
                dilated cardiomyopathy 1M 1
paths to the root

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