FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy with woolly hair and keratoderma
go back to main search page
Accession:DOID:0090128 term browser browse the term
Definition:An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the DSP gene on chromosome 6p24. (DO)
Synonyms:exact_synonym: Carvajal syndrome;   DCWHK;   Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy;   dilated cardiomyopathy, woolly hair, keratoderma;   palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
 primary_id: MESH:C535581
 alt_id: OMIM:605676;   RDO:0000792
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        hair disease 201
          dilated cardiomyopathy with woolly hair and keratoderma 1
            Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            hair disease 201
              Congenital Woolly Hair 3
                PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 2
                  dilated cardiomyopathy with woolly hair and keratoderma 1
                    Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
paths to the root