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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 1KK
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Accession:DOID:0110445 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: CMD1KK
 related_synonym: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22;   CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4;   CMH22;   RCM4
 primary_id: OMIM:615248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1KK term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mypn myopalladin ISO ClinVar Annotator: match by OMIM:615248
ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18006477 PMID:20801532 PMID:22286171 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        heart disease 2691
          Cardiomegaly 674
            dilated cardiomyopathy 300
              dilated cardiomyopathy 1KK 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                dilated cardiomyopathy 1KK 1
paths to the root