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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 with Woolly Hair, Keratoderma, and Tooth Agenesis
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Accession:DOID:9004026 term browser browse the term
Synonyms:exact_synonym: DCWHKTA;   dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis
 primary_id: OMIM:615821


show annotations for term's descendants           Sort by:
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:9536098 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    Stomatognathic Diseases 1260
      tooth disease 378
        Tooth Abnormalities 232
          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        Neurologic Manifestations 9942
          sensory system disease 6847
            skin disease 3903
              keratosis 180
                palmoplantar keratosis 41
                  Diffuse Palmoplantar Keratoderma 12
                    nonepidermolytic palmoplantar keratoderma 10
                      Naxos disease 4
                        Carvajal syndrome 3
                          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root