UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Disease: Skin Manifestations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		0.010 GeneticVariation phenotype BEFREE It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. 19268003 2009