Term Name: mal de Meleda
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.
Ontology: Human Disease [DOID:0060862]   ( DOID:0060862 )

Relationships
is a type of: autosomal recessive disease palmoplantar keratosis