eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | porphyria |
| Symptom | C0442874|neuropathy |
| Sentences | 1 |
| PubMedID- 21855406 | The neuropathy associated with acute intermittent porphyria (aip) occurs due to mutation involving the enzyme porphobilinogen deaminase (pbgd) and is characterised by motor-predominant features. |
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