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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:Carvajal syndrome
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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.



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Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
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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 OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13633
    sensory system disease 5164
      skin disease 2708
        hair disease 237
          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 13633
    disease of anatomical entity 13301
      nervous system disease 11018
        sensory system disease 5164
          skin disease 2708
            keratosis 127
              palmoplantar keratosis 27
                Diffuse Palmoplantar Keratoderma 7
                  nonepidermolytic palmoplantar keratoderma 6
                    Naxos disease 2
                      Carvajal syndrome 1
                        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root