http://purl.uniprot.org/diseases/4239 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature."xsd:string |