Congenital erythropoietic porphyria (Q55703)
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Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1935084712 |
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| English | Congenital erythropoietic porphyria |
Congenital erythropoietic porphyria, or Günther disease, is a rare autosomal recessive disorder due to mutations in the gene encoding uroporphyrinogen III synthase. This results in the accumulation of abnormal porphyrins in erythrocytes and manifests as very severe and mutilating photosensitivity. |
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CID11:ID_1935084712
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dki-india-ID_1935084712
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