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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 2C
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Accession:DOID:0081159 term browser browse the term
Definition:A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CMD2C
 primary_id: OMIM:618189
 alt_id: DOID:9006747
 xref: NCI:C186785


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dilated cardiomyopathy 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc30 coiled-coil domain containing 30 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c ClinVar PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 5:132,926,767...133,019,635
Ensembl chr 5:132,926,615...133,019,659 		JBrowse link
G Ppcs phosphopantothenoylcysteine synthetase ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754768 NCBI chr 5:133,023,077...133,026,899
Ensembl chr 5:133,023,121...133,026,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          Cardiomegaly 863
            dilated cardiomyopathy 455
              dilated cardiomyopathy 2C 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                dilated cardiomyopathy 2C 2
paths to the root