OBO ID: DOID:0111707
Term Name: Bothnian type palmoplantar keratoderma Search Ontology:
Synonyms:
  • diffuse palmoplantar keratoderma, Bothnian type
  • PPKB
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. (2)
References:
Ontology: Human Disease   ( DOID:0111707 )
OTHER Bothnian type palmoplantar keratoderma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AQP5 Palmoplantar keratoderma, Bothnian type
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None