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Human Disease

punctate palmoplantar keratoderma type III

Term ID
DOID:0060362
Synonyms
  • acrokeratoelastoidosis of Costa
  • punctate palmoplantar hyperkeratosis type 3
  • punctate palmoplantar keratoderma type 3
Definition
A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i
References
Ontology
Human Disease   ( DOID:0060362 )
Relationships
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Genes Involved
Zebrafish Models