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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


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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:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Carvajal syndrome 3
        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              keratosis 177
                palmoplantar keratosis 42
                  Diffuse Palmoplantar Keratoderma 11
                    nonepidermolytic palmoplantar keratoderma 9
                      Naxos disease 4
                        Carvajal syndrome 3
                          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root