PedAM
Pediatric Disease Annotations & Medicines
| Disease | keratitis |
| Phenotype | C0009806|constipation |
| Sentences | 1 |
| PubMedID- 22876245 | Therefore, criteria for a probable apeced have been defined as follows: (i) presence of one of cmc, hp, ad (before 30 years of age) and at least one of the minor components chronic diarrhea, keratitis, periodic rash with fever, severe constipation, autoimmune hepatitis, vitiligo, alopecia, enamel hypoplasia, (ii) any component and anti-interferon antibodies, or (iii) any component and antibodies against nacht leucine-rich repeat protein 5 (nalp5), aadc, tryptophan hydroxylase (tph), or th (husebye et al., 2009). |
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