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| Term | mal de Meleda | ID (Ontology) | DOID:0060862 (Human Disease) |
| 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. | ||
| Also Known As | "keratosis palmoplantaris transgrediens of Siemens" ; "MDM" ; "Meleda disease" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease__ keratosis | |__palmoplantar keratosis_______| mal de Meleda |
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| Is a |
autosomal recessive disease palmoplantar keratosis |
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GARD:92 ICD10CM:Q82.8 MESH:C565454 MIM:248300 ORDO:86923 ORDO:87503 UMLS_CUI:C1855644 UMLS_CUI:C4273986 |
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