Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8f2b554ae5b2255750e2c0d9d6ef8b40> ?p ?o ?g. }
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- B8f2b554ae5b2255750e2c0d9d6ef8b40 hasDbXref "Orphanet:319535" @default.
- B8f2b554ae5b2255750e2c0d9d6ef8b40 type Axiom @default.
- B8f2b554ae5b2255750e2c0d9d6ef8b40 annotatedProperty IAO_0000115 @default.
- B8f2b554ae5b2255750e2c0d9d6ef8b40 annotatedSource MONDO_0017897 @default.
- B8f2b554ae5b2255750e2c0d9d6ef8b40 annotatedTarget "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." @default.