| 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/7531539, https://www.ncbi.nlm.nih.gov/pubmed/23830519 |
| Xrefs | |
| SKOS |
exactMatch MESH:C536173 exactMatch UMLS_CUI:C1838359 exactMatch MIM:600231 exactMatch ORDO:2337 exactMatch GARD:1862 |
| Subsets |
DO_rare_slim |
| Synonyms |
diffuse palmoplantar keratoderma, Bothnian type [EXACT] PPKB [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |