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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
 broad_synonym: VCL-RELATED CONDITION
 primary_id: MESH:C566954
 alt_id: OMIM:611407
 xref: NCI:C187983


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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 chr15:3,246,616...3,264,846
Ensembl chr15:3,246,926...3,264,844 		JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 1W		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11815424 PMID:15331426 PMID:15769782 PMID:16199547 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            dilated cardiomyopathy 1W 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      cardiovascular system disease 5407
        heart disease 3322
          cardiomyopathy 1309
            intrinsic cardiomyopathy 914
              dilated cardiomyopathy 462
                dilated cardiomyopathy 1W 2
paths to the root