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mal de Meleda
Summary
- Synonym
-
- Meleda disease
- keratosis palmoplantaris transgrediens of Siemens
- 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.
- Super Class
- palmoplantar keratosis
External Links
- Disease Ontology
- DOID:0060862
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
