PedAM
Pediatric Disease Annotations & Medicines
| Disease | acute porphyria |
| Phenotype | C0162565|acute intermittent porphyria |
| Sentences | 2 |
| PubMedID- 25697467 | acute porphyria was diagnosed, with acute intermittent porphyria as the working diagnosis. |
| PubMedID- 24700519 | Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with skin blistering and photosensitivity: porphyria cutanea tarda; congenital erythropoietic porphyria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and x-linked. |
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