Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B18b100c2986c127d6b7065ab56e0f4a0> ?p ?o ?g. }
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- B18b100c2986c127d6b7065ab56e0f4a0 hasDbXref "Orphanet:319589" @default.
- B18b100c2986c127d6b7065ab56e0f4a0 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B18b100c2986c127d6b7065ab56e0f4a0 type Axiom @default.
- B18b100c2986c127d6b7065ab56e0f4a0 annotatedProperty IAO_0000115 @default.
- B18b100c2986c127d6b7065ab56e0f4a0 annotatedSource MONDO_0017903 @default.
- B18b100c2986c127d6b7065ab56e0f4a0 annotatedTarget "A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." @default.