| Metadata | |
|---|---|
| ID | DOID:0060862 |
| Name | mal de Meleda |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/11285253, https://www.ncbi.nlm.nih.gov/pubmed/9887370 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
keratosis palmoplantaris transgrediens of Siemens [EXACT] MDM [EXACT] Meleda disease [EXACT] palmoplantar keratoderma, Gamborg-Nielsen type [EXACT] palmoplantar keratoderma, Norrbotten type [EXACT] PPK, Gamborg-Nielsen type [EXACT] PPKGN [EXACT] PPKNR [EXACT] transgrediens palmoplantar keratoderma of Siemens [EXACT] |
| Parent Relationships |