[autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts. ( CSP )]
UMLS (CSP) C0162530 Relation/PAR: Genetic Condition
DIS PORPHYRIN METABOLISM
Skin Diseases, Genetic
congenital blood disorder