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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: MIM: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 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 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
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		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 term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 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 19087
    syndrome 11180
      Carvajal syndrome 3
        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 19087
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11085
        Neurologic Manifestations 10336
          sensory system disease 7249
            skin disease 4196
              Genetic Skin Diseases 1884
                palmoplantar keratosis 44
                  nonepidermolytic palmoplantar keratoderma 13
                    Naxos disease 4
                      Carvajal syndrome 3
                        Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root