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DOID:0060862 - mal de Meleda
Disease Ontology 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.
Synonyms: Meleda disease, keratosis palmoplantaris transgrediens of Siemens, transgrediens palmoplantar keratoderma of Siemens,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
palmoplantar keratosis (is_a)