Search Ontology:
Human Disease

Bothnian type palmoplantar keratoderma

Term ID
DOID:0111707
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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