GUNTHERS DISEASE
\ɡˈʌnθəz dɪzˈiːz], \ɡˈʌnθəz dɪzˈiːz], \ɡ_ˈʌ_n_θ_ə_z d_ɪ_z_ˈiː_z]\
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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.
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SQ10,643
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