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RGD uses the Human Disease Ontology (DO, 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 Taz tafazzin 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              Dilated Cardiomyopathy 3A 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          cardiomyopathy 1085
            intrinsic cardiomyopathy 736
              dilated cardiomyopathy 298
                Dilated Cardiomyopathy 3A 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.