has material basis in germline mutation in disease has major feature DSP Palmoplantar keratoderma Dilated cardiomyopathy Woolly hair arrhythmogenic cardiomyopathy with wooly hair and keratoderma https://github.com/monarch-initiative/mondo/issues/1120 https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma https://www.malacards.org/card/cardiomyopathy_dilated_with_woolly_hair_and_keratoderma_2 wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome GARD:0005595 SCTID:719835006 dilated cardiomyopathy with woolly hair and keratoderma woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome keratoderma with wooly hair type II wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome MESH:C535581 OMIM:605676 woolly hair - palmoplantar keratoderma - dilated cardiomyopathy palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome DOID:0090128 epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy UMLS:C1854063 cardiomyopathy dilated with woolly hair and keratoderma Orphanet:65282 cardiomyopathy, dilated, with woolly hair and keratoderma cardiomyopathy dilated with wooly hair and keratoderma MONDO:0011581 keratoderma with woolly hair type II woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome KWWH type II arrhythmogenic cardiomyopathy with wooly hair and keratoderma DCWHK Carvajal syndrome MEDGEN:340124 A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. dilated cardiomyopathy with wooly hair and keratoderma wooly hair - palmoplantar keratoderma - dilated cardiomyopathy cardiomyopathy, dilated, with wooly hair and keratoderma epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy obsolete syndrome associated with dilated cardiomyopathy focal palmoplantar keratoderma obsolete syndrome with wooly hair ectodermal dysplasia syndrome cardioectodermal syndrome