Search Ontology:
Human Disease

mal de Meleda

Term ID
DOID:0060862
Synonyms
  • keratosis palmoplantaris transgrediens of Siemens
  • MDM
  • Meleda disease
  • palmoplantar keratoderma, Gamborg-Nielsen type
  • palmoplantar keratoderma, Norrbotten type
  • PPK, Gamborg-Nielsen type
  • PPKGN
  • PPKNR
  • transgrediens palmoplantar keratoderma of Siemens
Definition
A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (2)
References
Ontology
Human Disease   ( DOID:0060862 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.