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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 IAGP
EXP
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar
CTD
OMIM
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G LOC110121274 VISTA enhancer hs2191 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma ClinVar PMID:28492532 NCBI chr 6:7,560,927...7,562,502 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 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis ClinVar
OMIM
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20716751 PMID:20940358 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20297
    sensory system disease 6229
      skin disease 3165
        hair disease 269
          Naxos disease 3
            Carvajal syndrome 2
              Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 20297
    disease of anatomical entity 18901
      nervous system disease 14875
        sensory system disease 6229
          skin disease 3165
            keratosis 163
              palmoplantar keratosis 37
                Diffuse Palmoplantar Keratoderma 13
                  nonepidermolytic palmoplantar keratoderma 11
                    Naxos disease 3
                      Carvajal syndrome 2
                        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root