Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Carvajal syndrome
go back to main search page
Accession:DOID:0090128 term browser browse the term
Definition:A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)
Synonyms:exact_synonym: DCWHK;   Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy;   dilated cardiomyopathy with woolly hair and keratoderma;   dilated cardiomyopathy, woolly hair, keratoderma;   palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
 primary_id: MESH:C535581
 alt_id: OMIM:605676;   RDO:0000792
 xref: GARD:5595;   ORDO:65282
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
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:15941723 PMID:16628197 PMID:16774985 PMID:16917092 PMID:20716751 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 18030
    sensory system disease 6469
      skin disease 3754
        hair disease 255
          Naxos disease 2
            Carvajal syndrome 1
              Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            keratosis 144
              palmoplantar keratosis 33
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    Naxos disease 2
                      Carvajal syndrome 1
                        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root