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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 1JJ
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Accession:DOID:0110438 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: CMD1JJ
 primary_id: OMIM:615235
 alt_id: RDO:9000877
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1JJ term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by OMIM:615235
ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17646580 PMID:20890277 PMID:21822268 More... NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      cardiovascular system disease 4520
        heart disease 2697
          Cardiomegaly 676
            dilated cardiomyopathy 301
              dilated cardiomyopathy 1JJ 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                dilated cardiomyopathy 1JJ 1
paths to the root