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Disease Ontology Browser
mal de Meleda (DOID:0060862)
Alliance: disease page
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
Alt IDs: OMIM:248300, ICD10CM:Q82.8, MESH:C565454, ORDO:86923, ORDO:87503, UMLS_CUI:C1855644, UMLS_CUI:C4273986
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory