Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bccb73c996840a11be800425ee0bb2b51> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- Bccb73c996840a11be800425ee0bb2b51 hasDbXref "Orphanet:319581" @default.
- Bccb73c996840a11be800425ee0bb2b51 source "https://orcid.org/0000-0001-5208-3432" @default.
- Bccb73c996840a11be800425ee0bb2b51 type Axiom @default.
- Bccb73c996840a11be800425ee0bb2b51 annotatedProperty IAO_0000115 @default.
- Bccb73c996840a11be800425ee0bb2b51 annotatedSource MONDO_0014429 @default.
- Bccb73c996840a11be800425ee0bb2b51 annotatedTarget "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." @default.