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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
 xref: GARD:5595;   ORDO:65282


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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: 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 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 6:7,541,326...7,586,717 		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: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
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 6:7,541,326...7,586,717 		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 35754
    syndrome 18145
      Carvajal syndrome 5
        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 2
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        Neurologic Manifestations 15411
          sensory system disease 9761
            skin disease 4885
              Genetic Skin Diseases 2473
                palmoplantar keratosis 57
                  Diffuse Palmoplantar Keratoderma 16
                    nonepidermolytic palmoplantar keratoderma 14
                      Naxos disease 7
                        Carvajal syndrome 5
                          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 2
paths to the root