Term Name: | mal de Meleda |
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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 ) |