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url:https\\://www.omim.org/entry/605676]","descendants":[],"doid":"DOID:0090128","name":"Carvajal syndrome","parents":["DOID:0080551"],"synonyms":{"exact":["DCWHK","dilated cardiomyopathy with woolly hair and keratoderma","palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"]},"xrefs":{"gard":"5595","mesh":"C535581","mim":"605676","ordo":"65282"}},"hpo":[{"clinical_course":[{"biocuration":{"date":"2023-07-13","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":2,"freq_numerator":2,"hpo_id":"HP:0003577","hpo_name":"Congenital onset","numeric_freq":1.0,"original_disease_id":"OMIM:605676","pmid_refs":"PMID:11841538"},{"biocuration":{"date":"2020-07-17","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":12,"freq_numerator":2,"hpo_id":"HP:0011421","hpo_name":"Death in 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syndrome","orphanet":"65282","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001635","orphanet_refs":"orphanet:65282"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001644","orphanet_refs":"orphanet:65282"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002224","orphanet_refs":"orphanet:65282"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0005588","orphanet_refs":"orphanet:65282"}]}],"mondo":{"ancestors":["MONDO:0002051","MONDO:0100080","MONDO:0021026","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:0005093","MONDO:0100118","MONDO:0003847","MONDO:7770006","MONDO:0019287","MONDO:0002254","MONDO:7770008"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0011581"]},"definition":"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. [https://clinicalgenome.org/affiliation/40003/]","disease_has_major_feature":{"hp":["HP:0000982"]},"excluded_subClassOf":{"mondo":["MONDO:0016337"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/3052"]},"label":"arrhythmogenic cardiomyopathy with wooly hair and keratoderma","mondo":"MONDO:0011581","parents":["MONDO:0019287","MONDO:0100080"],"synonym":{"exact":["arrhythmogenic cardiomyopathy with wooly hair and keratoderma","Carvajal syndrome","DCWHK","dilated cardiomyopathy with wooly hair and keratoderma","keratoderma with woolly hair type II","keratoderma with wooly hair type II","KWWH type II","palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair","palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair","woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"],"related":["cardiomyopathy dilated with woolly hair and keratoderma","cardiomyopathy dilated with wooly hair and keratoderma","cardiomyopathy, dilated, with woolly hair and keratoderma","cardiomyopathy, dilated, with wooly hair and keratoderma","epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy","epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy","woolly hair - palmoplantar keratoderma - dilated cardiomyopathy","woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome","wooly hair - palmoplantar keratoderma - dilated cardiomyopathy","wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome"]},"xrefs":{"doid":["DOID:0090128"],"gard":["0005595"],"medgen":["340124"],"mesh":["C535581"],"omim":["605676"],"orphanet":["65282"],"sctid":["719835006"],"umls":["C1854063"]}},"original_id":"orphanet:65282","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C535581","preferred":"C535581"},"snomed":{"non-preferred":"719835006"},"umls":"C1854063"}}