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
(all 9)
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. (3)
References
(all 8)
Ontology
Human Disease   ( DOID:0060862 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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