Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B027a68f70aa7a76e5b377855c8b4a84e> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B027a68f70aa7a76e5b377855c8b4a84e hasDbXref "Orphanet:391487" @default.
- B027a68f70aa7a76e5b377855c8b4a84e type Axiom @default.
- B027a68f70aa7a76e5b377855c8b4a84e annotatedProperty IAO_0000115 @default.
- B027a68f70aa7a76e5b377855c8b4a84e annotatedSource MONDO_0013599 @default.
- B027a68f70aa7a76e5b377855c8b4a84e 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.