| Metadata | |
|---|---|
| ID | DOID:0080551 |
| Name | Naxos disease |
| Definition | A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes, https://rarediseases.info.nih.gov/diseases/9795/disease, https://www.ncbi.nlm.nih.gov/pubmed/29747658 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |