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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 2E
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Accession:DOID:0081161 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: CMD2E
 broad_synonym: JPH2-RELATED CONDITION
 alt_id: DOID:9006126
 xref: MIM:619492;   MONDO:0030366

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dilated cardiomyopathy 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E OMIM
ClinVar		 PMID:22584458 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26718681 More... NCBI chr 2:19,626,035...19,703,589
Ensembl chr 2:19,626,832...19,703,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      thoracic disease 3682
        heart disease 3145
          Cardiomegaly 811
            dilated cardiomyopathy 520
              dilated cardiomyopathy 2E 1
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 15079
      respiratory system disease 4790
        thoracic disease 3682
          heart disease 3145
            cardiomyopathy 1325
              intrinsic cardiomyopathy 982
                dilated cardiomyopathy 520
                  dilated cardiomyopathy 2E 1
paths to the root