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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 3A
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Accession:DOID:9003608 term browser browse the term
Synonyms:exact_synonym: Cardiomyopathy, Dilated, X-Linked Fatal Infantile
 primary_id: MESH:C564721;   RDO:0013586
For additional species annotation, visit the Alliance of Genome Resources.


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Dilated Cardiomyopathy 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3A ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            X-linked monogenic disease 1017
              Dilated Cardiomyopathy 3A 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      cardiovascular system disease 4410
        heart disease 2672
          cardiomyopathy 1080
            intrinsic cardiomyopathy 726
              dilated cardiomyopathy 298
                Dilated Cardiomyopathy 3A 1
paths to the root