Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.
D001853:Bone Marrow / Q000648:ultrastructure; D002262:Carboxy-Lyases / Q000172:deficiency*; D004912:Erythrocytes / Q000473:pathology; D004913:Erythrocytes, Abnormal / Q000473:pathology; D004920:Erythropoiesis; D005243:Feces / Q000032:analysis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011164:Porphyrias / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D011166:Porphyrins / Q000097:blood / Q000652:urine; D012871:Skin Diseases / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood / Q000172:deficiency*; D014576:Uroporphyrinogen III Synthetase / Q000097:blood
D011166:Porphyrins; D011163:Hydroxymethylbilane Synthase; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase; D014576:Uroporphyrinogen III Synthetase