- GÑŒnther disease
- GÑŒn·ther disease (gēnґter) [Hans GÑŒnther, German physician, 1884–1956] see congenital erythropoietic porphyria, under porphyria.
Medical dictionary. 2011.
Medical dictionary. 2011.
GÑŒnther disease — congenital erythropoietic porphyria … Medical dictionary
congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… … Medical dictionary