. . . . . . . . . . . . "[Congenital erythropoietic porphyria (CEP) or Gnther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2013-07-24"^^ . "2014-10-02T12:32:01+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .