| Metadata | |
|---|---|
| ID | DOID:0111707 |
| Name | Bothnian type palmoplantar keratoderma |
| Definition | A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. https://www.ncbi.nlm.nih.gov/pubmed/23830519, https://www.ncbi.nlm.nih.gov/pubmed/7531539 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
diffuse palmoplantar keratoderma, Bothnian type [EXACT] PPKB [EXACT] |
| Parent Relationships |