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- Ba180b7e347a8f9db06bb8995857e98a0 hasDbXref "Orphanet:294023" @default.
- Ba180b7e347a8f9db06bb8995857e98a0 type Axiom @default.
- Ba180b7e347a8f9db06bb8995857e98a0 annotatedProperty IAO_0000115 @default.
- Ba180b7e347a8f9db06bb8995857e98a0 annotatedSource MONDO_0017411 @default.
- Ba180b7e347a8f9db06bb8995857e98a0 annotatedTarget "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." @default.