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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 1W
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Accession:DOID:0110446 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. (DO)
Synonyms:exact_synonym: CMD1W
 primary_id: MESH:C566954
 alt_id: OMIM:611407;   RDO:0015157
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1W ClinVar PMID:11815424, PMID:16236538, PMID:21681106 NCBI chr15:3,435,998...3,454,281
Ensembl chr15:3,436,361...3,454,279
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by OMIM:611407
ClinVar Annotator: match by term: Dilated cardiomyopathy 1W
OMIM
ClinVar
PMID:11815424, PMID:15331426, PMID:15769782, PMID:16236538, PMID:16385454, PMID:16712796, PMID:16949038, PMID:17097056, PMID:17785437, PMID:20474083, PMID:21681106, PMID:22421524, PMID:23159629, PMID:23299917, PMID:23396983, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24062880, PMID:24503780, PMID:25332820, PMID:25351510, PMID:25500949, PMID:25741868, PMID:26191084, PMID:26458567, PMID:26656175, PMID:26735901, PMID:27503891, PMID:27532257, PMID:27930701, PMID:27957775, PMID:28087426, PMID:28492532, PMID:28611029, PMID:28750076, PMID:28771489, PMID:29247119, PMID:29540472, PMID:29875424 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            dilated cardiomyopathy 1W 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          cardiomyopathy 1088
            intrinsic cardiomyopathy 737
              dilated cardiomyopathy 299
                dilated cardiomyopathy 1W 2
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.