《英文msh词典》Porphyria,Erythropoietic,Congenital
[同义词] Porphyria,Erythropoietic,Congenital
[主题词] Porphyria,Erythropoietic
[中文释义] 卟啉病,红细胞生成性,先天性
[英文释义] Autosomal recessive porphyria characterized by splenomegaly,photosensitivity,hemolytic anemia,and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.