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- B90da51ca2989787caa5eb63ad3faf441 hasDbXref "Orphanet:391487" @default.
- B90da51ca2989787caa5eb63ad3faf441 type Axiom @default.
- B90da51ca2989787caa5eb63ad3faf441 annotatedProperty IAO_0000115 @default.
- B90da51ca2989787caa5eb63ad3faf441 annotatedSource MONDO_0013599 @default.
- B90da51ca2989787caa5eb63ad3faf441 annotatedTarget "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." @default.