| http://purl.uniprot.org/diseases/5630 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features."xsd:string |