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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 1GG
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Accession:DOID:0110435 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)
Synonyms:exact_synonym: CMD1GG
 primary_id: OMIM:613642


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dilated cardiomyopathy 1GG term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            dilated cardiomyopathy 1GG 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          cardiomyopathy 1309
            intrinsic cardiomyopathy 915
              dilated cardiomyopathy 463
                dilated cardiomyopathy 1GG 1
paths to the root