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RGD uses the Human Disease Ontology (DO, 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 2B
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Accession:DOID:0110441 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CMD2B
 primary_id: OMIM:614672
 alt_id: RDO:9000823
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
dilated cardiomyopathy 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by OMIM:614672
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2b
PMID:21965549, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          Cardiomegaly 666
            dilated cardiomyopathy 299
              dilated cardiomyopathy 2B 1
Path 2
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
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                dilated cardiomyopathy 2B 1
paths to the root


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