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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:Naxos disease
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Accession:DOID:0080551 term browser browse the term
Definition:A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: Mal de Naxos;   NXD;   arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities;   keratosis palmoplantaris with arrhythmogenic cardiomyopathy;   palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair;   woolly hair, palmoplantar keratoderma, and cardiac abnormalities
 primary_id: MESH:C538346
 alt_id: OMIM:601214
 xref: GARD:9795;   ORDO:34217
For additional species annotation, visit the Alliance of Genome Resources.



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Naxos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by OMIM:601214
OMIM
ClinVar
PMID:9536098 PMID:10902626 PMID:16199547 PMID:17576681 PMID:18672408 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
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: 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: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605676
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
OMIM
ClinVar
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 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 OMIM:615821
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:20716751 PMID:20940358 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 17251
    physical disorder 3093
      congenital heart disease 1083
        arrhythmogenic right ventricular cardiomyopathy 97
          Naxos disease 2
            Carvajal syndrome + 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            Genetic Skin Diseases 1051
              palmoplantar keratosis 32
                Diffuse Palmoplantar Keratoderma 11
                  nonepidermolytic palmoplantar keratoderma 9
                    Naxos disease 2
                      Carvajal syndrome + 1
paths to the root