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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


show annotations for term's descendants           Sort by:
Naxos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin IAGP
EXP		 ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LOC130060847 ATAC-STARR-seq lymphoblastoid silent region 8499 IAGP ClinVar Annotator: match by term: Naxos disease ClinVar PMID:25741868 NCBI chr17:41,786,380...41,786,679 JBrowse link
Carvajal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G DSP desmoplakin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
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
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
OMIM:605676
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
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 PMID:9536098 PMID:16199547 PMID:16917092 PMID:17576681 PMID:20129281 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114 		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
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 IAGP ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 6:7,590,198...7,611,967
Ensembl chr 6:7,590,198...7,611,967 		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
EXP		 ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis ClinVar PMID:16199547 PMID:20716751 PMID:21606396 PMID:24033266 PMID:24503780 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      skin disease 4874
        hair disease 387
          Naxos disease 7
            Carvajal syndrome + 5
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              Genetic Skin Diseases 2469
                palmoplantar keratosis 57
                  Diffuse Palmoplantar Keratoderma 16
                    nonepidermolytic palmoplantar keratoderma 14
                      Naxos disease 7
                        Carvajal syndrome + 5
paths to the root